D. Rosenblatt

发表

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutation

R. Rozen, S. Sibani, D. Leclerc, 2003, Human mutation.

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

D. Watkins, D. Rosenblatt, J. Gueant, 2022, Human Genetics.

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site

E. Quadros, A. Helfer, D. Rosenblatt, 2003, British journal of haematology.

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

D. Jacobsen, P. Dibello, D. Rosenblatt, 2011, Molecular genetics and metabolism.

SYNTHESIS OF METHOTREXATE POLYGLUTAMATES IN CULTURED HUMAN CELLS

D. Rosenblatt, C. Scriver, V. Whitehead, 1977, Pediatric Research.

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood.

D. Watkins, D. Rosenblatt, R. Carmel, 1988, The New England journal of medicine.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

N. Leslie, R. Hopkin, P. Rinaldo, 2015, Genetics in Medicine.

The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.

D. Watkins, D. Rosenblatt, S. Tucci, 2019, Biochimica et biophysica acta. Molecular and cell biology of lipids.

Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA).

Yann Joly, Eugene Kolker, Emmanuelle Vaast, 2011, Current pharmacogenomics and personalized medicine.

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

J. Ganesh, J. Orange, J. Majewski, 2011, Journal of Medical Genetics.

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

T. Shaikh, K. Artinger, D. Rosenblatt, 2014, Developmental biology.

Inborn errors of cobalamin metabolism.

R. Banerjee, D. Rosenblatt, 1999 .

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.

I. Goldman, D. Rosenblatt, A. Qiu, 2007, Blood.

The Neurology of Cobalamin

M. Shevell, D. Rosenblatt, 1992, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

D. Leclerc, D. Rosenblatt, J. Phillips, 1998, American journal of human genetics.

Confounding factors in identification of disease-resilient individuals

H. Levy, D. Watkins, D. Rosenblatt, 2016, Nature Biotechnology.

Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.

P. Goyette, R. Rozen, P. Goyette, 1996, American journal of human genetics.

Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.

M. Shevell, F. Ledley, D. Rosenblatt, 1993, American journal of medical genetics.

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

D. Leclerc, D. Rosenblatt, R. Gravel, 1999, Human molecular genetics.

Fragile X.

B. Popovich, M. Vekemans, D. Rosenblatt, 1982, The New England journal of medicine.

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

R. Rozen, V. Meiner, S. Korman, 2014, JAMA Neurology.

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

D. Rosenblatt, S. Schuh, B. Cooper, 1984, The New England journal of medicine.

A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening

M. Geraghty, D. Watkins, D. Rosenblatt, 2013, Pediatrics.

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency

P. Stover, D. Watkins, D. Rosenblatt, 2015, Rare diseases.

Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

Z. Awan, J. Genest, D. Rosenblatt, 2014, Thrombosis Journal.

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

D. Rosenblatt, J. Lerner-Ellis, R. Gravel, 2006, Molecular genetics and metabolism.

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1

J. Ganesh, J. Orange, D. Watkins, 2013, Pediatrics.

Anticonvulsants, folate levels, and pregnancy outcome: A prospective study

F. Andermann, E. Andermann, D. Rosenblatt, 1987, Annals of neurology.

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis

P. Stover, D. Watkins, D. Rosenblatt, 2014, Proceedings of the National Academy of Sciences.

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Warren A. Cheung, T. Shaikh, T. Pastinen, 2017, Human molecular genetics.

Identification of Variants in Alpha-1-Antitrypsin by High Resolution Melting.

D. Rosenblatt, B. Gilfix, G. Bidla, 2020, The journal of applied laboratory medicine.

Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening.

M. Marble, D. Rosenblatt, S. Copeland, 2008, The Journal of pediatrics.

Cloning and Expression of Mutations Demonstrating Intragenic Complementation in mut° Methylmalonic Aciduria

F. Ledley, D. Rosenblatt, A. Crane, 2013 .

Prenatal Diagnosis of Miscellaneous Biochemical Disorders

J. Schulman, D. Rosenblatt, R. Hirschhorn, 1986 .

Gain-of-function mutation in TRPV 4 identi fi ed in patients with osteonecrosis of the femoral head

M. Nelson, C. Chalk, J. Majewski, 2016 .

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

I. Miousse, D. Watkins, D. Rosenblatt, 2014, JIMD reports.

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

John J. Mitchell, D. Zafeiriou, B. Echenne, 2014, Journal of Inherited Metabolic Disease.

Transcobalamin II deficiency with methylmalonic aciduria in three sisters

E. R. Baumgartner, H. Bibi, D. Rosenblatt, 1999, Journal of Inherited Metabolic Disease.

Expression of transcobalamin II by amniocytes

D. Rosenblatt, N. Matiaszuk, A. Hosack, 1987, Prenatal diagnosis.

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.

M. Lambert, R. Laframboise, D. Rosenblatt, 1999, The Journal of pediatrics.

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

N. Mrabet, J. Camadro, D. Watkins, 2013, Human molecular genetics.

Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.

B. Popovich, D. Rosenblatt, A. Kendall, 1986, American journal of human genetics.

Cobalamin and Inborn Errors of Cobalamin Absorption and Metabolism

D. Watkins, D. Rosenblatt, 2001 .

Novel reductant for determination of total plasma homocysteine.

D. Rosenblatt, B. Gilfix, D. Blank, 1997, Clinical chemistry.

Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.

I. Miousse, J. Coulton, D. Rosenblatt, 2012, Molecular genetics and metabolism.

9 Effects of folate deficiency on embryonic development

D. Rosenblatt, B. Christensen, 1995 .

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers.

R. Surtees, D. Rosenblatt, B. Cooper, 1993, American journal of medical genetics.

Clinical correlates of subnormal vitamin B12 levels in patients infected with the human immunodeficiency virus

O. Paltiel, M. Veilleux, D. Rosenblatt, 1995, American journal of hematology.

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.

D. J. Driscoll, C. Williams, P. Arn, 1998, American journal of medical genetics.

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

M. Baumgartner, T. Suormala, G. Nürnberg, 2009, Nature Genetics.

Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism

D. Watkins, D. Rosenblatt, 2021 .

Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4

E. Carpenter, C. A. Shintre, J. Coulton, 2014, Molecular membrane biology.

Lessons in biology from patients with inborn errors of vitamin B12 metabolism.

D. Watkins, D. Rosenblatt, 2013, Biochimie.

Cobalamin F Disease Detected by Newborn Screening and Follow-up on a 14-Year-Old Patient

M. Shinawi, D. Dietzen, I. Miousse, 2011, Pediatrics.

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.

I. Miousse, D. Watkins, D. Rosenblatt, 2011, Molecular genetics and metabolism.

Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.

J. Coulton, B. Gibbs, D. Rosenblatt, 2011, Molecular genetics and metabolism.

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin‐bound vitamin B12

S. Fedosov, J. M. Sequeira, E. Quadros, 2010, Human mutation.

Vitamin B12: Disorders of Absorption and Metabolism

D. Watkins, D. Rosenblatt, 2010 .

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product.

R. Banerjee, Jihoe Kim, D. Jacobsen, 2009, Molecular genetics and metabolism.

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

S. Packman, A. Barkovich, G. Enns, 1999, Journal of Inherited Metabolic Disease.

The Mmachc gene is required for pre-implantation embryogenesis in the mouse.

M. Tremblay, L. Jerome-Majewska, D. Rosenblatt, 2014, Molecular genetics and metabolism.

Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypes.

D. Rosenblatt, C. Scriver, J. Mcgill, 1990, American journal of medical genetics.

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

C. Ackerley, C. Ross, W. Wasserman, 2014, Orphanet Journal of Rare Diseases.

Folic acid blinded trial in identical twins with fragile X syndrome.

E. Andermann, M. Vekemans, D. Rosenblatt, 1985, American journal of human genetics.

Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man

D. Rosenblatt, C. Scriver, 1968, Nature.

Osteonecrosis of the femoral head: genetic basis

E. Harvey, D. Rosenblatt, C. Séguin, 2018, International Orthopaedics.

Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.

B. Popovich, M. Vekemans, D. Rosenblatt, 1983, Journal of medical genetics.

Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate

R. Steiner, K. Gibson, T. Bottiglieri, 2003, Journal of Perinatology.

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

G. Geoffroy, D. Watkins, D. Rosenblatt, 1986, The Journal of pediatrics.

Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations

F. Ledley, D. Rosenblatt, Fred D. Ledley, 1997, Human mutation.

Inherited disorders of vitamin B12 utilization

D. Rosenblatt, B. Cooper, 1990, BioEssays : news and reviews in molecular, cellular and developmental biology.

Identification of two mutant alleles of transcobalamin II in an affected family.

B. Seetharam, D. Rosenblatt, B. Kamen, 1994, Human molecular genetics.

Reciprocal changes in the levels of functionally related folate enzymes during the culture cycle in human fibroblasts.

D. Rosenblatt, R. Erbe, 1973, Biochemical and biophysical research communications.

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

E. Shoubridge, J. Coulton, A. Janer, 2013, Molecular genetics and metabolism.

Expression of Mmachc and Mmadhc during mouse organogenesis.

L. Jerome-Majewska, D. Rosenblatt, Mihaela Pupavac, 2011, Molecular genetics and metabolism.

Parallel changes in metabolite and expression profiles in crooked-tail mutant and folate-reduced wild-type mice.

Y. Pao, J. Nadeau, M. Ross, 2006, Human molecular genetics.

Policy statement concerning DNA banking and molecular genetic diagnosis. Canadian College of Medical Geneticists.

J. Hamerton, R. Korneluk, D. Rosenblatt, 1991, Clinical and investigative medicine. Medecine clinique et experimentale.

Update on cobalamin, folate, and homocysteine.

R. Green, D. Watkins, D. Rosenblatt, 2003, Hematology. American Society of Hematology. Education Program.

Gene identification for the cblD defect of vitamin B12 metabolism.

M. Baumgartner, T. Suormala, D. Rosenblatt, 2008, The New England journal of medicine.

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

C. Roe, C. Francomano, D. Rosenblatt, 1988, The Journal of pediatrics.

Vitamins: cobalamin and folate

C. Venditti, D. Watkins, D. Rosenblatt, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Disorders of Cobalamin and Folate Transport and Metabolism

D. Watkins, D. Rosenblatt, B. Fowler, 2012 .

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations

M. Baumgartner, T. Suormala, T. Pastinen, 2009, Human mutation.

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

C. Morel, D. Rosenblatt, J. Lerner-Ellis, 2006, Molecular genetics and metabolism.

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

M. Seashore, W. Fenton, B. Pletcher, 1997, Journal of Inherited Metabolic Disease.

A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia.

A. Chango, J. Nicolas, D. Rosenblatt, 2000, Molecular genetics and metabolism.

Inherited Disorders of Cobalamin and Folate Absorption and Metabolism

M. Shevell, D. Rosenblatt, 1995 .

Ketoacidotic crisis as a presentation of mild ("benign") methylmalonic acidemia.

F. Ledley, H. Levy, D. Rosenblatt, 1991, The Journal of pediatrics.

Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood

C. A. Rupar, C. Prasad, D. Rosenblatt, 2008, Journal of Inherited Metabolic Disease.

Cobalamin and folate deficiency: acquired and hereditary disorders in children.

D. Rosenblatt, V. Whitehead, 1999, Seminars in hematology.

Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.

D. Rosenblatt, A. Arzoumanian, N. Matiaszuk, 1992, Biochemical medicine and metabolic biology.

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

D. Watkins, D. Rosenblatt, D. Rosenblatt, 1989, American journal of medical genetics.

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

D. Watkins, D. Rosenblatt, David, 1988, The Journal of clinical investigation.

Inherited disorders of vitamin B12 metabolism.

D. Rosenblatt, B. Cooper, 1987, Blood reviews.

Inherited defects of vitamin B12 metabolism.

D. Rosenblatt, B. Cooper, 1987, Annual review of nutrition.

New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.

R. Laframboise, D. Rosenblatt, P. Langevin, 1986, Pediatrics.

Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism.

R. Laframboise, D. Rosenblatt, B. Cooper, 1985, Science.

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis.

D. Rosenblatt, B. Cooper, N. Matiaszuk, 1984, The Journal of clinical investigation.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

C. Morel, P. Rinaldo, D. Watkins, 2005, Molecular genetics and metabolism.

A homozygous nonsense mutation in the methylmalonyl‐CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

H. Waterham, R. Wanders, W. Kleijer, 2006, Human Mutation.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

A. Verner, P. Lepage, D. Rosenblatt, 2006, Human mutation.

A common mutation among blacks with mut− methylmalonic aciduria

D. Rosenblatt, N. Matiaszuk, C. Adjalla, 1998, Human mutation.

Seven novel mutations in mut methylmalonic aciduria

S. Evans, D. Rosenblatt, B. Gilfix, 1998, Human mutation.

Inherited disorders of cobalamin metabolism.

D. Rosenblatt, B. Cooper, A. Qureshi, 1994, Critical reviews in oncology/hematology.

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

T. Hudson, T. Wai, D. Leclerc, 2002, Human molecular genetics.

Methylenetetrahy drofolate Reductase in Cultured Human Cells. I. Growth and Metabolic Studies

D. Rosenblatt, R. Erbe, 1977, Pediatric Research.

Inherited Disorders of Folate and Cobalamin

D. Rosenblatt, 1997 .

Vitamin B12 (Cb1)-Responsive Disorders

D. Rosenblatt, 1992 .

PRENATAL VITAMIN B12 THERAPY OF A FETUS WITH METHYLCOBALAMIN DEFICIENCY (COBALAMIN E DISEASE)

D. Rosenblatt, S. Schmutz, B. Cooper, 1985, The Lancet.

Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria.

R. Banerjee, G. Campanello, M. Ohi, 2019, Cell chemical biology.

Sacrificial Cobalt-Carbon Bond Homolysis in Coenzyme B12 as a Cofactor Conservation Strategy.

Aditi Gupta, R. Banerjee, G. Dodge, 2018, Journal of the American Chemical Society.

Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations.

S. Packman, D. Rosenblatt, I. Frieden, 1997, Archives of dermatology.

Clinical presentation and outcome in a series of 88 patients with the cblC defect

M. Baumgartner, H. Mandel, E. Martins, 2014, Journal of Inherited Metabolic Disease.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

C. Lee-Messer, G. Enns, J. Bernstein, 2009, The Journal of pediatrics.

Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells

D. Watkins, D. Rosenblatt, B. Cooper, 1990, American journal of hematology.

Changes in cobalamin metabolism are associated with the altered methionine auxotrophy of highly growth autonomous human melanoma cells

R. Liteplo, D. Rosenblatt, H. Lue-Shing, 1991, Journal of cellular physiology.

Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA.

R. Quintero, P. Rinaldo, M. Evans, 1997, Fetal diagnosis and therapy.

Vitamin B(12) and birth defects.

D. Watkins, D. Rosenblatt, Fei Li, 2009, Molecular genetics and metabolism.

Folate distribution in cultured human cells. Studies on 5,10-CH2-H4PteGlu reductase deficiency.

D. Rosenblatt, P. Wong, R. Baumgartner, 1979, The Journal of clinical investigation.

Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease.

P. Frosst, P. Goyette, R. Rozen, 1997, Arteriosclerosis, thrombosis, and vascular biology.

Polycystic kidney diseases in childhood.

D. Rosenblatt, B. Kaplan, H. Rosenberg, 1989, The Journal of pediatrics.

Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.

D. Watkins, D. Rosenblatt, B. Gilfix, 2021, Molecular genetics and metabolism.

Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia

R. Lorini, R. Rozen, G. Minniti, 2001, Journal of Inherited Metabolic Disease.

Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.

D. Watkins, D. Rosenblatt, V. Shih, 1989, American journal of medical genetics.

Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?

T. Kitzler, D. Rosenblatt, J. E. Helou, 2022, Neuromuscular Disorders.

Molecular Characterization of an Atypical j0-Thalassemia Caused by a Large Deletion in the 5' P-Globin Gene Region

Kendall, B. Popovich, D. Rosenblatt, 2006 .

Mechanisms of teratogenesis: folic acid and antiepileptic therapy.

E. Andermann, D. Rosenblatt, L. Dansky, 1992, Neurology.

Deletional beta-thalassemia with high Hb A2.

B. Popovich, D. Rosenblatt, A. Kendall, 1988, Hemoglobin.

Intracellular folate distribution in cultured fibroblasts from patients with the fragile X syndrome.

B. Popovich, M. Vekemans, D. Rosenblatt, 1983, American journal of human genetics.

Folate polyglutamate synthesis and turnover in cultured human fibroblasts.

D. Rosenblatt, B. Cooper, J. Hilton, 1979, The Journal of biological chemistry.

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)

R. Schutgens, J. Lindemans, D. Rosenblatt, 1997, Journal of Inherited Metabolic Disease.

Thermolability of residual methylene-tetrahydrofolate reductase (MR) activity, methionine synthase activity and methyl-cobalamin levels in cultured fibroblasts from patients with MR deficiency.

D. Rosenblatt, B. Cooper, A. Arzoumanian, 1993, Advances in experimental medicine and biology.

Differences in Liver Folate Enzyme Patterns in Premature and Full Term Infants

D. Rosenblatt, S. Zlotkin, A. Kalnitsky, 1982, Pediatric Research.

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.

J. Harpey, C. Roy, D. Rosenblatt, 1981, The Journal of pediatrics.

Vitamin B12 Metabolism during Pregnancy and in Embryonic Mouse Models

L. Jerome-Majewska, D. Rosenblatt, Maira A. Moreno-Garcia, 2013, Nutrients.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

E. Shoubridge, M. Baumgartner, T. Suormala, 2012, Nature Genetics.

Experience over fifteen years with a protocol for predictive testing for Huntington disease.

D. Rosenblatt, M. Roy, Suzanne Dufrasne, 2011, Molecular genetics and metabolism.

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head

M. Nelson, C. Chalk, J. Majewski, 2016, Journal of Medical Genetics.

Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

R. Matthews, R. Milos, R. Rozen, 1994, Nature Genetics.

Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

E. Shoubridge, J. Rommens, H. Antonicka, 2006, Nature Genetics.

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

C. Venditti, L. Brody, M. Caggana, 2022, American journal of medical genetics. Part A.

Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism.

D. Watkins, D. Rosenblatt, 2020, Current opinion in clinical nutrition and metabolic care.

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

T. Hudson, B. Ge, T. Wai, 2002, American journal of human genetics.

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

R. Rozen, N. Sabbaghian, L. Arbour, 1999, American journal of medical genetics.

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

P. Goyette, R. Rozen, P. Goyette, 1996, Human molecular genetics.

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

D. Watkins, D. Rosenblatt, 2012, Journal of Inherited Metabolic Disease.

Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency.

K. Hogan, R. Laxová, R. Selzer, 2003, The New England journal of medicine.

Prolonged inhibition of DNA synthesis associated with the accumulation of methotrexate polyglutamates by cultured human cells.

D. Rosenblatt, M. Dupont, M. Vuchich, 1978, Molecular pharmacology.

Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.

L. Barness, C. Harding, D. Rosenblatt, 1997, American journal of medical genetics.

A RaDiCAL gene hunt

D. Rosenblatt, M. Zawati, Mihaela Pupavac, 2017, Journal of Taibah University Medical Sciences.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

R. Gibbs, S. Robertson, M. Bainbridge, 2012, American journal of human genetics.

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Y. Chien, J. Majewski, D. Watkins, 2012, Molecular genetics and metabolism.

Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

Adrian Thorogood, B. Knoppers, A. Thorogood, 2013, Journal of Medical Genetics.

Exome and whole‐genome sequencing for gene discovery: The future is now!

J. Majewski, D. Rosenblatt, 2012, Human mutation.

Effect of betaine onS-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy

D. Rosenblatt, N. Sakura, T. Eguchi, 1994, Journal of Inherited Metabolic Disease.

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

Aaron D. Wilson, S. Scherer, H. Heng, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Differential effects of folinic acid and glycine, adenosine, and thymidine as rescue agents in methotrexate-treated human cells in relation to the accumulation of methotrexate polyglutamates.

D. Rosenblatt, M. Vuchich, V. Whitehead, 1982, Molecular pharmacology.

The molecular basis of glutamate formiminotransferase deficiency

X. Estivill, T. Hudson, R. Mackenzie, 2003, Human mutation.

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Kevin C. H. Ha, J. Majewski, K. Al-Thihli, 2011, Journal of Medical Genetics.

Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.

D. Watkins, D. Rosenblatt, 2016, Biochimie.

Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.

M. Baumgartner, Sébastien Hergalant, V. Marchand, 2020, Human molecular genetics.

Autosomal dominant polycystic kidney disease in the fetus.

D. Bichet, D. Rosenblatt, A. Grignon, 1994, American journal of medical genetics.

Accumulation of methotrexate and methotrexate polyglutamates in lymphoblasts at diagnosis of childhood acute lymphoblastic leukemia: a pilot prognostic factor analysis.

J. Shuster, A. Witte, D. Rosenblatt, 1990, Blood.

Methotrexate polyglutamate synthesis in lymphoblasts from children with acute lymphoblastic leukemia.

D. Rosenblatt, M. Vuchich, V. Whitehead, 1987, Developmental pharmacology and therapeutics.

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.

Kevin C. H. Ha, J. Majewski, L. Jerome-Majewska, 2010, American journal of human genetics.

The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.

L. Jerome-Majewska, D. Rosenblatt, Maira A. Moreno-Garcia, 2012, Molecular genetics and metabolism.

Genetic and molecular control of folate-homocysteine metabolism in mutant mice

D. Sankoff, J. Nadeau, R. Balling, 2002, Mammalian Genome.

Vitamin B12 Deficiency in Inflammatory Bowel Disease: Prevalence, Risk Factors, Evaluation, and Management

A. Bitton, E. Seidman, U. Kopylov, 2014, Inflammatory bowel diseases.

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

W. Chung, M. Baumgartner, A. Montpetit, 2018, Nature Communications.

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

Warren A. Cheung, E. Shoubridge, A. Gingras, 2016, Human mutation.

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease.

M. Tuchman, D. Watkins, D. Rosenblatt, 1988, The Journal of pediatrics.

Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography.

J. Bergeron, D. Rosenblatt, B. Cooper, 1991, Experimental cell research.

Local Cerebral Glucose Utilization in Two Models of B12 Deficiency

A. Hakim, D. Rosenblatt, B. Cooper, 1983, Journal of Neurochemistry.

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

J. T. Black, A. Moser, R. Schmidt, 2001, Annals of neurology.

Predictive value of apolipoprotein E genotyping in Alzheimer's disease: Results of an autopsy series and an analysis of several combined studies

S. Gauthier, J. Poirier, J. Nalbantoglu, 1994, Annals of neurology.

Methylenetetrahydrofolate Reductase in Cultured Human Cells. II. Genetic and Biochemical Studies of Methylenetetrahydrofolate Reductase Deficiency

D. Rosenblatt, R. Erbe, 1977, Pediatric Research.

Histidinemia discovered by urine screening after renal transplantation.

D. Rosenblatt, C. Scriver, F. Mohyuddin, 1970, Pediatrics.

Methotrexate metabolism in mutant Chinese hamster ovary cells lacking dihydrofolate reductase.

D. Rosenblatt, M. Vuchich, P. Joannon, 1986, Biochemical pharmacology.

Methotrexate metabolism by bone marrow cells from patients with leukemia.

D. Rosenblatt, V. Whitehead, 1983, Advances in experimental medicine and biology.

High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

C. Wittwer, D. Watkins, D. Rosenblatt, 2013, Molecular genetics and metabolism.

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

F. Ledley, D. Rosenblatt, A. Crane, 1994, The Journal of clinical investigation.

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

F. Ledley, Ruud Jansen, D. Rosenblatt, 1991, The Journal of clinical investigation.

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

D. Watkins, D. Rosenblatt, C. Ficicioglu, 2014, Pediatric neurology.

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

R. Schutgens, D. Rosenblatt, B. Poorthuis, 1992, European Journal of Pediatrics.

Development of arthritis in Lowe's syndrome

L. Holmes, D. Rosenblatt, 1974 .

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation.

R. Favier, Z. Massy, D. Borderie, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine

D. Rosenblatt, A. Kohlschütter, A. Kohlschutter, 1997, Journal of Inherited Metabolic Disease.

Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms.

M. Rethoré, C. Mircher, A. Chango, 2004, The American journal of clinical nutrition.

Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.

D. S. Froese, D. Watkins, D. Rosenblatt, 2020, Molecular genetics and metabolism.

Erratum: Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

R. Matthews, R. Milos, P. Goyette, 1994, Nature Genetics.

The effect of 677C-->T and 1298A-->C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects.

D. Quilliot, A. Chango, J. Nicolas, 2000, The British journal of nutrition.

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

E. Sell, E. Shoubridge, E. Farrow, 2017, Human mutation.

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

P. Frosst, P. Goyette, R. Rozen, 1995, American journal of human genetics.

Primary antibody deficiency associated with ring chromosome 18

J. Rivière, R. Alizadehfar, M. Yeganeh, 2020 .

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

J. Majewski, C. A. Rupar, C. Prasad, 2013, Molecular genetics and metabolism.

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

C. Wittwer, D. Watkins, D. Rosenblatt, 2012, Molecular genetics and metabolism.

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

T. Hudson, T. Wai, D. Leclerc, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Defects in Auxiliary Redox Proteins Lead to Functional Methionine Synthase Deficiency*

R. Banerjee, L. Brody, Zhiqiang Chen, 1997, The Journal of Biological Chemistry.

Attitudes Toward Direct Predictive Testing for the Huntington Disease Gene: Relevance for Other Adult-Onset Disorders

M. Hayden, W. Meschino, O. Suchowersky, 1993 .

Biochemical and Molecular Roles of nutrients Mitochondrial NADH-or NADPH-Linked Aquacobalamin ReducÃ-ase Activity Is Low in Human Skin Fibroblasts with Defects in Synthesis of Cobalamin Coenzymes 1

Akio, F. Watanabe, D. Rosenblatt, 2006 .

Inhibition of methotrexate polyglutamate accumulation in cultured human cells.

D. Rosenblatt, M. Vuchich, V. Whitehead, 1981, Molecular pharmacology.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

R. Rozen, C. Morel, E. Christensen, 2005, Molecular genetics and metabolism.

Severe Combined Immunode fi ciency Resulting From Mutations in MTHFD 1 abstract Folate and vitamin B

J. Ganesh, D. Rosenblatt, C. Bergqvist, 2012 .

Cobalamin C defect associated with hemolytic-uremic syndrome.

D. Valle, E. Perlman, M. Geraghty, 1992, The Journal of pediatrics.

Tubulointerstitial nephritis in methylmalonic acidemia

M. Geraghty, D. Rosenblatt, S. Rutledge, 1993, Pediatric Nephrology.

cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling.

E. Zammarchi, D. Rosenblatt, E. Pasquini, 1990, Clinical and investigative medicine. Medecine clinique et experimentale.

Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

Henry J. Lin, A. Jonas, D. Rosenblatt, 2009, The Journal of pediatrics.

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

T. Shaikh, M. Baumgartner, T. Suormala, 2013, American journal of human genetics.

Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance

C. Morel, D. Rosenblatt, A. Tsai, 2007, American journal of medical genetics. Part A.

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

A. Beaudet, O. Bodamer, S. Appel, 2001, Neurology.

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

T. Pastinen, D. Watkins, D. Rosenblatt, 2009, Molecular genetics and metabolism.

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

L. Wong, D. Watkins, D. Rosenblatt, 2016, Molecular genetics and metabolism.

Transcobalamin (TC) deficiency and newborn screening

C. A. Rupar, C. Prasad, D. Rosenblatt, 2012, Journal of Inherited Metabolic Disease.

Nonsense mutations in human transcobalamin II deficiency.

B. Seetharam, D. Rosenblatt, N. Li, 1994, Biochemical and biophysical research communications.

ARHGDIA: a novel gene implicated in nephrotic syndrome

Kevin C. H. Ha, S. Narod, J. Majewski, 2013, Journal of Medical Genetics.

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment

S. McCandless, A. Larson, J. V. Van Hove, 2021, Journal of inherited metabolic disease.

Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects.

J. Nadeau, W. O'Brien, D. Rosenblatt, 2005, Physiological genomics.

Methionine Synthase Reductase

R. Rozen, D. Leclerc, D. Rosenblatt, 2002, Definitions.

Effect of Methionine and Nitrous Oxide on Homocysteine Export and Remethylation in Fibroblasts from Cystathionine Synthase-Deficient, cblG, and cblE Patients

P. Ueland, R. Chu, D. Rosenblatt, 1994, Pediatric Research.

Inherited Defects of Cobalamin Metabolism

D. Watkins, D. Rosenblatt, 2017 .

Effects of folate deficiency on embryonic development.

D. Rosenblatt, B. Christensen, 1995, Bailliere's clinical haematology.

Lethal late onset cblB methylmalonic aciduria

M. Donati, D. Rosenblatt, G. Poggi, 2000, Critical Care Medicine.

Methylenetetrahydrofolate reductase.

D. Rosenblatt, D S Rosenblatt, 2001, Clinical and investigative medicine. Medecine clinique et experimentale.

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

A. Montpetit, P. Lepage, D. Watkins, 2006, Molecular genetics and metabolism.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

M. Baumgartner, T. Suormala, E. Holme, 2015, Journal of Inherited Metabolic Disease.

Malabsorption of vitamin B12 from the intestine in a child with cblF disease: evidence for lysosomal-mediated absorption [letter]

R. Laframboise, D. Rosenblatt, B. Cooper, 1992 .

Malabsorption of vitamin B12 from the intestine in a child with cblF disease: evidence for lysosomal-mediated absorption.

R. Laframboise, D. Rosenblatt, B. Cooper, 1992, Blood.

Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

J. Rivière, D. Watkins, D. Rosenblatt, 2019, Genetics in Medicine.

Methotrexate polyglutamates in cultured human cells.

D. Rosenblatt, V. Whitehead, 1983, Advances in experimental medicine and biology.

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene

S. Lévesque, F. Thuriot, P. Waters, 2016, Molecular genetics and metabolism reports.

Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).

D. Watkins, D. Rosenblatt, 1986, American journal of human genetics.

Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

A. Sewell, D. Rosenblatt, I. Mylonas, 1999, Journal of Inherited Metabolic Disease.

82 COBALAMIN C DISEASE AND EXPANDED NEWBORN SCREENING: THE CALIFORNIA EXPERIENCE.

S. Packman, G. Enns, T. Cowan, 2007 .

Synthesis of methotrexate polyglutamates by bone marrow cells from patients with leukemia and lymphoma.

A. Witte, D. Rosenblatt, M. Vuchich, 1980, Developmental pharmacology and therapeutics.

Symposium: Improving Human Nutrition through Genomics, Proteomics and Biotechnologies Nutrigenes, Functional Genomics and Systems Biology 1

J. Nadeau, D. Rosenblatt, M. Carter, 2003 .

Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene

P. Goyette, R. Rozen, D. Rosenblatt, 1998, Journal of Inherited Metabolic Disease.

Vitamin B12 responsive homocystinuria and megaloblastic anemia: heterogeneity in methylcobalamin deficiency.

D. Watkins, D. Rosenblatt, R. Erbe, 1987, American journal of medical genetics.

Heterogeneity in cblG: differential retention of cobalamin on methionine synthase.

D. Rosenblatt, S. Sillaots, C. Hall, 1992, Biochemical medicine and metabolic biology.

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

R. Rozen, I. Saadi, E. O'ferrall, 2000, Human mutation.

Genetic screening for breast cancer.

W. Foulkes, S. Narod, D. Rosenblatt, 1996, The New England journal of medicine.

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

N. Longo, D. Leclerc, D. Watkins, 2006, Molecular genetics and metabolism.

Nutrigenes, functional genomics and systems biology.

J. Nadeau, D. Rosenblatt, M. Carter, 2003, The Journal of nutrition.

Methionine auxotrophy in inborn errors of cobalamin metabolism.

D. Rosenblatt, V. Garovic-Kocic, 1992, Clinical and investigative medicine. Medecine clinique et experimentale.

Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome.

D. Rosenblatt, D. Rosenblatt, 1999, The American journal of clinical nutrition.

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism.

D. Watkins, D. Rosenblatt, A. Hosack, 2007, Molecular genetics and metabolism.

Novel Reductant for Determination of Total Plasma

D. Rosenblatt, B. Gilfix, D. Blank, 1997 .

In Vitro and in Vivo Inactivation of Transcobalamin II Receptor by Its Antiserum (*)

B. Seetharam, D. Rosenblatt, R. Komorowski, 1996, The Journal of Biological Chemistry.

Predictive value of apolipoprotein E genotyping in Alzheimer's disease: Results of an autopsy series and an analysis of several combined studies

S. Gauthier, J. Poirier, J. Nalbantoglu, 1994, Annals of neurology.

Polymorphic background of methionine synthase reductase modulates the phenotype of a disease‐causing mutation

R. Banerjee, D. Rosenblatt, C. Gherasim, 2007, Human mutation.

Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD.

D. Rosenblatt, S. Byck, 1991, Clinical and investigative medicine. Medecine clinique et experimentale.

Perspective on the future of genetic counseling assistants - Should it be a steppingstone or a stand-alone career?

J. Fitzpatrick, D. Rosenblatt, Kenzie Melvill, 2022, Molecular genetics and metabolism.

852 PRENATAL VITAMIN B12 THERAPY OF A FETUS WITH METHYLCOBALAMIN DEFICIENCY

D. Rosenblatt, S. Schmutz, B. Cooper, 1985, Pediatric Research.

Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.

D. J. Driscoll, P. Arn, R. Zori, 1998, American journal of medical genetics.

Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.

D. Rosenblatt, N. Sakura, T. Eguchi, 1994, Journal of inherited metabolic disease.

Molecular Bases of Hyper-Homocysteinemia due to Inborn Errors of Folate and Cobalamin Metabolism

D. Rosenblatt, 2002 .

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

D. Watkins, D. Rosenblatt, 2012, Journal of Inherited Metabolic Disease.

Who's on first in exome and whole genome sequencing? Is it the patient or the incidental findings?

D. Rosenblatt, 2013, Molecular genetics and metabolism.