H. Mandel

H. Mandel, A. Etzioni, S. Postovsky, 2007, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

B. Byrne, J. Clancy, H. Mandel, 2007, Neurology.

Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients A Proposed Mechanism for Thiamin-responsive Phenotype*

Jun Li, H. Mandel, D. Chuang, 2003 .

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

H. Mandel, S. Krähenbühl, A. Gratwohl, 2011, Bone Marrow Transplantation.

Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single‐center experience underscoring the multiple factors involved in the prognosis

H. Mandel, R. Elhasid, Galit Tal, 2021, Pediatric blood & cancer.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

H. Mandel, P. Chinnery, A. Gratwohl, 2015, Brain : a journal of neurology.

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

H. Mandel, N. Elçioglu, F. Stewart, 2006, Molecular genetics and metabolism.

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment patient-oriented and epidemiological research

H. Mandel, L. Kalfon, T. Falik-Zaccai, 2020 .

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

H. Mandel, Ann Saada, A. Shaag, 2009, European Journal of Human Genetics.

Familial leukoencephalopathy with slowly progressive dystonia and ataxia.

H. Mandel, D. Lev, T. Lerman-Sagie, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

H. Mandel, D. Lev, W. Dobyns, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PRIMARY HYPEROXALURIA TYPE 1: IMPROVED OUTCOME WITH TIMELY LIVER TRANSPLANTATION: A SINGLE-CENTER REPORT OF 36 CHILDREN

H. Mandel, B. Eisenstein, Z. Ben‐Ari, 2001, Transplantation.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

T. Dierks, H. Mandel, J. Reiss, 1998, Nature Genetics.

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

H. Mandel, J. Graessler, F. Bittner, 2021, Biomedicines.

Intra-Familial Clinical Heterogeneity: Absence of Genotype-Phenotype Correlation in Primary Hyperoxaluria Type 1 in Israel

R. Wanders, H. Mandel, Y. Frishberg, 2005, American Journal of Nephrology.

DNA‐based prenatal diagnosis for severe and variant forms of multiple acyl‐CoA dehydrogenation deficiency

H. Mandel, B. Andresen, N. Gregersen, 2005, Prenatal diagnosis.

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

H. Mandel, D. Magen, A. Luder, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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.

Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome

H. Mandel, A. Lorber, A. Gazit, 2003, Pediatric Cardiology.

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Timothy Barrett, Hanna Mandel, Adel Shalata, 1999, Nature Genetics.

Progress in Molecular and Subcellular Biology

Carl R. Woese, Bernard W. Agranoff, Fred E. Hahn, 1969, Progress in Molecular and Subcellular Biology.

Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon)

H. Mandel, S. Korman, N. Levy, 2005, Journal of Inherited Metabolic Disease.

Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease.

H. Mandel, M. Berant, R. Ludatscher, 1993, American journal of medical genetics.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

Thiamine-dependent beriberi in the "thiamine-responsive anemia syndrome".

H. Mandel, M. Berant, Y. Naveh, 1984, The New England journal of medicine.

The spectrum of mutations, including four novel ones, in the thiamine‐responsive megaloblastic anemia gene SLC19A2 of eight families

J. Cayuela, A. Baruchel, H. Mandel, 2000, Human mutation.

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

H. Mandel, E. Neufeld, T. Raz, 1998, Human Genetics.

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

H. Mandel, A. Stagg, E. Neufeld, 1997, American journal of human genetics.

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

B. Roe, A. Munnich, E. Génin, 2000, The Journal of clinical investigation.

Progressive familial intrahepatic cholestasis among the Arab population in Israel.

H. Mandel, M. Berant, Y. Naveh, 1997, Journal of pediatric gastroenterology and nutrition.

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

H. Mandel, Ann Saada, O. Elpeleg, 2002, Journal of Molecular Medicine.

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

H. Mandel, Ann Saada, S. Eriksson, 2001, Nature Genetics.

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

H. Mandel, Ann Saada, S. Eriksson, 2001, Nature Genetics.

Diagnostic work-up of a peroxisomal patient

H. Mandel, R. Wanders, B. Poll-The, 1995, Journal of Inherited Metabolic Disease.

Human liver pathology in peroxisomal diseases: a review including novel data.

H. Mandel, J. Saudubray, F. Roels, 1993, Biochimie.

Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency.

H. Mandel, Ann Saada, O. Elpeleg, 2003, Biochemical and biophysical research communications.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Phenotypic variability (heterogeneity) of peroxisomal disorders.

H. Mandel, S. Korman, 2003, Advances in experimental medicine and biology.

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

H. Waterham, H. Mandel, R. Wanders, 2004, Human mutation.

Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

H. Waterham, R. Wanders, H. Mandel, 2004, Pediatric Research.

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

H. Waterham, R. Wanders, H. Mandel, 2003, Advances in experimental medicine and biology.

Peroxisome mosaicism in the livers of peroxisomal deficiency patients

H. Mandel, R. Wanders, B. Poll-The, 1995, Hepatology.

Cell and tissue heterogeneity in peroxisomal patients

T. Hashimoto, R. Wanders, H. Mandel, 1995 .

A new type of peroxisomal disorder with variable expression in liver and fibroblasts.

R. Wanders, H. Mandel, M. Berant, 1994, The Journal of pediatrics.

Zellweger-like phenotype in two siblings: A defect in peroxisomal β-oxidation with elevated very long-chain fatty acids but normal bile acids

R. Wanders, H. Mandel, M. Berant, 1992, Journal of Inherited Metabolic Disease.

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

H. Mandel, B. Poll-The, J. Smeitink, 1995, European journal of cell biology.

Infantile Refsum disease: neonatal cholestatic jaundice presentation of a peroxisomal disorder.

R. Wanders, H. Mandel, M. Berant, 1995, Journal of pediatric gastroenterology and nutrition.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

H. Mandel, J. Taanman, N. Cohen, 2002, Annals of neurology.

Concomitant Congenital CMV Infection and Inherited Liver Diseases.

H. Mandel, K. Weiss, T. Falik-Zaccai, 2021, European journal of medical genetics.

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.

H. Mandel, R. Gershoni-baruch, J. Parma, 1999, Thyroid : official journal of the American Thyroid Association.

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

S. Almashanu, H. Mandel, A. Luder, 2016, Journal of Inherited Metabolic Disease.

Interstitial deletion (6)q13q15.

H. Mandel, R. Gershoni-baruch, Z. Borochowitz, 1996, American journal of medical genetics.

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

M. Polymeropoulos, H. Mandel, B. Annabi, 1998, American journal of human genetics.

Brain abscesses in glycogen‐storage disease‐type 1b

H. Mandel, B. Garty, M. Nitzan, 1992, Acta paediatrica.

Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

Robert W. Taylor, H. Prokisch, H. Mandel, 2018, Human mutation.

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

H. Mandel, M. Indelman, E. Sprecher, 2014, European journal of medical genetics.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

H. Mandel, Ann Saada, J. Staples, 2020, Molecular genetics and metabolism reports.

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

J. Schuurs-Hoeijmakers, H. Mandel, J. van Reeuwijk, 2011, PLoS genetics.

Investigating the cardiac pathology of SCO2‐mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell–derived cardiomyocytes

H. Mandel, R. Rodenburg, E. Vlodavsky, 2017, Journal of cellular and molecular medicine.

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Richard C Trembath, Paul Gissen, Colin A. Johnson, 2004, Nature Genetics.

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

F. Benfenati, H. Mandel, E. Levanon, 2019, Brain : a journal of neurology.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*

E. Karam, H. Mandel, S. Berkovic, 2013, The Journal of Biological Chemistry.

Activated protein C resistance can be associated with recurrent fetal loss

H. Mandel, G. Ohel, Z. Blumenfeld, 1997, British journal of haematology.

Clinical and molecular genetic features of ARC syndrome

Colin A. Johnson, E. Génin, H. Mandel, 2006, Human Genetics.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

H. Mandel, F. Müller, F. Rahman, 2010, Nature Genetics.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome

R. Sougrat, H. Mandel, D. Chitayat, 2009, Human mutation.

Acute hemodialysis therapy in neonates with inborn errors of metabolism

H. Mandel, D. Magen, D. Eytan, 2022, Pediatric Nephrology.

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

H. Mandel, R. Gershoni-baruch, E. Dagan, 2014, Pediatric neurology.

Plasmalogen phospholipids are involved in HDL-mediated cholesterol efflux: insights from investigations with plasmalogen-deficient cells.

P. Vreken, R. Wanders, H. Mandel, 1998, Biochemical and biophysical research communications.

EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans[S]

H. Mandel, Y. Hirabayashi, H. Sugimoto, 2018, Journal of Lipid Research.

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy.

D. Geiger, H. Mandel, D. Magen, 2017, The New England journal of medicine.

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

H. Mandel, S. Korman, N. Bashan, 1997, American journal of medical genetics.

The role of orotic acid measurement in routine newborn screening for urea cycle disorders

S. Almashanu, H. Mandel, A. Fattal-Valevski, 2020, Journal of inherited metabolic disease.

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

Wuh-Liang Hwu, Hanna Mandel, H. Mandel, 2006, Jornal de Pediatria.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

H. Mandel, S. Edwards, K. Miller, 2019, American journal of human genetics.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Allison J. Taggart, J. Casanova, J. Boeke, 2018, Cell.

First Trimester Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome(7-Dehydrocholesterol Reductase Deficiency)

H. Mandel, R. Gershoni-baruch, K. Mills, 1996, Pediatric Research.

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

D. Behar, H. Mandel, D. Goldsher, 2014, Human Genetics.

Oral contraceptives and breastfeeding: haematological effects on the infant.

H. Mandel, M. Berant, 1985, Archives of disease in childhood.

Peroxisome mosaics.

R. Wanders, H. Mandel, P. Krystkowiak, 2003, Advances in experimental medicine and biology.

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

H. Mandel, L. Kalfon, T. Falik-Zaccai, 2021, Molecular genetics & genomic medicine.

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

A. Chapelle, F. Wright, S. Liyanarachchi, 2003, Nature Genetics.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

H. Mandel, M. Filosto, J. Poulton, 2019, Journal of clinical medicine.

Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship

H. Mandel, D. Goldsher, J. Gomori, 2014, European Journal of Human Genetics.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

William B Dobyns, Hanna Mandel, Bruria Ben-Zeev, 2010, American journal of human genetics.

Concentric bladder wall thickening due to haemorrhage following suprapubic aspiration: ultrasound and CT features.

H. Mandel, O. Brook, G. Bar-Joseph, 2007, The British journal of radiology.

Coagulopathy unmasking hepatic failure in a child with ornithine transcarbamylase deficiency.

H. Mandel, R. Hoffman, N. Samuel, 2013, The Israel Medical Association journal : IMAJ.

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet.

Jonathan C. Cohen, Hanna Mandel, H. Mandel, 2010, Journal of hepatology.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, G. Pruijn, 2018, Nature Communications.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

C. Fallet-Bianco, D. Labuda, H. Mandel, 2015, American journal of human genetics.

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

H. Mandel, Ann Saada, A. Feigenbaum, 1999, American journal of medical genetics.

Thiamine pyrophosphate: An essential cofactor for the α-oxidation in mammals – implications for thiamine deficiencies?

H. Mandel, B. Gelb, P. Veldhoven, 2006, Cellular and Molecular Life Sciences CMLS.

UvA-DARE ( Digital Academic Repository ) Molecular basis of hepatic carnitine palmitoyltransferase

R. Wanders, H. Mandel, L. Ijlst, 1998 .

Prenatal diagnosis of non‐ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli–Arab mutations

H. Mandel, M. Rolland, Y. Matsubara, 1999, Prenatal diagnosis.

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

Yoichi Matsubara, Hanna Mandel, H. Mandel, 1998, Human Genetics.

Homocystinuria in the Arab population of Israel: Identification of two novel mutations using DGGE analysis

H. Mandel, B. Sela, B. Fowler, 2000, Human mutation.

Primary sclerosing cholangitis associated with immunodeficiency.

H. Mandel, M. Berant, Y. Naveh, 1983, American journal of diseases of children.

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment[S]

H. Mandel, L. Kalfon, T. Falik-Zaccai, 2018, Journal of Lipid Research.

Nonsyndromic Paucity of Interlobular Bile Ducts: Report of 10 Patients

H. Mandel, R. Shamir, C. Hartman, 2003, Journal of pediatric gastroenterology and nutrition.

Vici syndrome in Israel: Clinical and molecular insights

H. Mandel, N. Fleischer, B. Pode-Shakked, 2022, Frontiers in Genetics.

Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia

S. Almashanu, H. Mandel, A. Fattal-Valevski, 2022, Journal of inherited metabolic disease.

Proteomics reveals that redox regulation is disrupted in patients with ethylmalonic encephalopathy.

H. Mandel, N. Gregersen, A. A. Monavari, 2011, Journal of proteome research.

Familial distal renal tubular acidosis with neurosensory deafness: early nephrocalcinosis.

H. Mandel, M. Berant, U. Alon, 1989, American Journal of Nephrology.

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

H. Mandel, Y. Anikster, E. Christensen, 1996, American journal of human genetics.

Sandifer Syndrome Reconsidered

H. Mandel, M. Berant, E. Tirosh, 1989, Acta paediatrica Scandinavica.

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

H. Mandel, D. Goldsher, B. Sela, 2013, Neurology.

Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1.

H. Mandel, G. Rumsby, C. Avey, 1995, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

H. Mandel, A. Shuldiner, J. Overton, 2019, Journal of Human Genetics.

Results of the patient ’ s clotting factors essays showing coagulopathy due to liver failure

H. Mandel, R. Hoffman, N. Samuel, 2022 .

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

H. Mandel, M. Indelman, R. Bergman, 2011, American journal of dermatopathology.

The significance of isolated elevation of serum aminotransferases in infants and young children

H. Mandel, R. Shaoul, A. Pacht, 2007, Archives of Disease in Childhood.

The MitCHAP-60 Disease Is Due to Entropic Destabilization of the Human Mitochondrial Hsp60 Oligomer*

A. Horovitz, H. Mandel, A. Azem, 2009, The Journal of Biological Chemistry.

Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.

H. Mandel, R. Loewenthal, I. Shapira, 2001, Genetic testing.

Mucolipidosis III presenting as a rheumatological disorder.

H. Mandel, M. Berant, D. Goldscher, 1993, The Journal of rheumatology.

Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis

H. Mandel, M. Berant, A. Luder, 2000, Prenatal diagnosis.

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

H. Mandel, J. Smeitink, L. P. Van den Heuvel, 2001, Annals of neurology.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Infantile Refsum Disease: Gastrointestinal Presentation of a Peroxisomal Disorder

H. Mandel, R. Wanders, R. Schutgens, 1992, Journal of pediatric gastroenterology and nutrition.

Myeloid Dysplasia in Familial 3-Methylglutaconic Aciduria

H. Mandel, R. Gershoni-baruch, R. Elhasid, 2006, Journal of pediatric hematology/oncology.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Pedro Rebelo-Guiomar, M. Minczuk, J. Veltman, 2018, Nature Communications.

Measurement of 3‐hydroxy‐3‐methylglutaryl‐CoA lyase activity in amniotic cells and in chorionic villi

H. Mandel, R. Wanders, O. Elpeleg, 1988, Prenatal diagnosis.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

M. Zeviani, H. Mandel, R. Lodi, 2020, Journal of inherited metabolic disease.

The Liver in Congenital Disorders of Glycosylation: Ultrastructural Features

H. Mandel, M. Mahajnah, Irena Manov, 2007, Ultrastructural pathology.

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

R. Wanders, H. Mandel, B. Andresen, 2007, American journal of human genetics.

ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

S. Kushner, H. Mandel, M. Vernooij, 2018, Neurology: Genetics.

Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

H. Mandel, N. Raben, P. Kishnani, 2013, Orphanet Journal of Rare Diseases.

Characteristic urine organic acid profile in peroxisomal biogenesis disorders

H. Mandel, S. Korman, A. Gutman, 2000, Journal of Inherited Metabolic Disease.

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

H. Mandel, P. García-Pavía, G. Quarta, 2017, American journal of medical genetics. Part A.

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

H. Mandel, M. Berant, J. Reiss, 1998, American journal of human genetics.

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

H. Mandel, J. Reiss, N. Cohen, 2000, Prenatal diagnosis.

‘Sick’, irritable infant with fever, vomiting, bloody stool and abdominal distention (Discussion and Diagnosis)

H. Mandel, I. Kassis, I. Srugo, 2010 .

Congenital permanent diabetes: a different type of diabetes?

H. Mandel, R. Gershoni-baruch, N. Shehadeh, 1996, Acta paediatrica.

Genetic defects in peroxisome morphogenesis (Pex11β, dynamin‐like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid‐phospholipid metabolism

H. Waterham, H. Mandel, R. Wanders, 2022, Journal of inherited metabolic disease.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

H. Mandel, N. Matsumoto, M. Shiina, 2017, Journal of Human Genetics.

Hereditary orotic aciduria identified by newborn screening

S. Almashanu, H. Mandel, A. Fattal-Valevski, 2023, Frontiers in Genetics.

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome

S. Pietrokovski, H. Mandel, R. Gershoni-baruch, 2015, Neurology.

Determination of fructose metabolic pathways in normal and fructose-intolerant children: a 13C NMR study using [U-13C]fructose.

H. Mandel, N. Vaisman, A. Gopher, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.

H. Mandel, A. V. van Cruchten, A. V. van Gennip, 1994, Advances in Experimental Medicine and Biology.

Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

H. Mandel, F. Müller, F. Rahman, 2011, Nature Genetics.

Molecular, biochemical end clinical aspects of peroxisomes biogenesis disorders

H. Mandel, F. Eyskens, Yasuyuki Suzuki, 2004 .

Common variants in DGKK are strongly associated with risk of hypospadias

L. Kiemeney, B. Franke, J. Veltman, 2011, Nature Genetics.

Clinical Zinc Deficiency During Zinc‐Supplemented Formula

H. Mandel, M. Berant, Y. Naveh, 1989, Journal of Pediatric Gastroenterology and Nutrition - JPGN.

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

D. Behar, H. Mandel, D. Goldsher, 2015, Human Genetics.