D. Rosenblatt

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Inborn errors of cobalamin absorption and metabolism

D. Watkins, D. Rosenblatt, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Complementation studies in the cblAclass of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

D. Watkins, N. Matiaszuk, D. Rosenblatt, 2000, Journal of medical genetics.

Inherited defects of cobalamin metabolism.

D. Watkins, D. Rosenblatt, 2022, Vitamins and hormones.

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

L. Wong, D. Watkins, Jing Wang, 2016, Molecular genetics and metabolism.

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Lucas C. Reineke, Matthew C. Hill, Alexander B. Saltzman, 2022, Nature Communications.

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

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

Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism

P. Kaplan, J. Treat, D. Watkins, 2013, Pediatric Nephrology.

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

T. Wai, P. Lepage, D. Leclerc, 2004, Human mutation.

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

D. Roquis, D. Watkins, L. Worgan, 2007, Human mutation.

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

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

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

M. Baumgartner, D. Trégouët, P. Morange, 2022, Clinical epigenetics.

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.

Mutations in the MMAA Gene in Patients With the cblA Disorder of Vitamin B12 Metabolism

T. Wai, P. Lepage, D. Leclerc, 2005 .

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

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

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.

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

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

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.

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

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

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

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

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

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

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.

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.

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

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

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.

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

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

Inborn errors of cobalamin absorption and metabolism

D. Watkins, D. Rosenblatt, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

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.

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.