Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)-Reference-Cited by-同舟云学术

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

Published:1997-11 Issue:6 Volume:20 Page:731-741
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Fowler B.¹,Schutgens R.B.H.²,Rosenblatt D.S.³,Smit G.P.A.⁴,Lindemans J.⁵

Affiliation:

1. ; Basel University Children's Hospital; Basel Switzerland

2. ; Department of Pediatrics; University of Amsterdam; Amsterdam The Netherlands

3. ; Division of Medical Genetics, Department of Medicine; McGill University; Montreal Quebec Canada

4. ; Department of Pediatrics; University Hospital of Groningen; Groningen The Netherlands

5. ; Department of Clinical Chemistry; Erasmus University Rotterdam; Rotterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005372730310/fullpdf

Reference38 articles.

1. The measurement of serum pyridoxal by a microbiological assay using Lactobacillus casei;Anderson;J Clin Pathol,1970

2. Cobalamin-dependent methionine synthase;Banerjee;FASEB J,1990

3. Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies;Baumgartner;Pediatr Res,1985

4. Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphocytes;Boss;J Clin Invest,1985

5. Hereditary defect of cobalamin metabolism (cb1G mutation) presenting as a neurologic disorder in adulthood;Carmel;N Engl J Med,1988

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1. Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena;Pediatric Blood & Cancer;2024-01-12

2. Intracellular processing of vitamin B12 by MMACHC (CblC);Vitamins and Hormones;2022

3. Homocysteine Metabolism in Children and Adolescents: Influence of Age on Plasma Biomarkers and Correspondent Genotype Interactions;Nutrients;2019-03-16

4. First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child;Pathology;2019-01

5. Disorders of Amino Acid Metabolism;2017

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