Transcobalamin II deficiency with methylmalonic aciduria in three sisters-Reference-Cited by-同舟云学术

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Transcobalamin II deficiency with methylmalonic aciduria in three sisters

Published:1999-10 Issue:7 Volume:22 Page:765-772
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Bibi H.¹,Gelman-Kohan Z.²,Baumgartner E. R.³,Rosenblatt D. S.⁴

Affiliation:

1. ; Pediatric Department; Barzilai Medical Center; Ashkelon Israel

2. ; Clinical Genetic Institute; Barzilai Medical Center; Ashkelon Israel

3. ; Metabolic Unit; University Children's Hospital; Basel Switzerland

4. ; Division of Medical Genetics, Department of Medicine; Royal Victoria Hospital; Montreal Quebec Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005507204491/fullpdf

Reference25 articles.

1. Transcobalamin II deficiency: long term follow up to two cases;Arrabel;Acta Haematol,1988

2. Assignment of human transcobalamin II (TC II) to chromosome 22 using osmotic cell hybrids and monosomic meningioma cells;Arwert;Hum Genet,1986

3. Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin;Barshop;Am J Med Genet,1990

4. Uptake and metabolism of free cyanocobalmin by cultured human fibroblasts from controls and a patient with transcobalmin II deficiency;Berliner;Metabolism,1981

5. Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient;Burman;Br J Haematol,1979

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1. Determination of plasma transcobalamin-II and zinc levels in newly-diagnosed and long-standing grand mal epileptic patients;CASP J INTERN MED;2023

2. Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report;Italian Journal of Pediatrics;2021-03-08

3. Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature;Journal of Pediatric Endocrinology and Metabolism;2020-11-26

4. Water-Soluble Vitamins;Pediatric Nutrition;2020

5. Water-Soluble Vitamins;Pediatric Nutrition (Sponsored Member Benefit);2020

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