The neurologic aspects of transcobalamin II deficiency-Reference-Cited by-同舟云学术

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The neurologic aspects of transcobalamin II deficiency

Published:1992-01 Issue:1 Volume:80 Page:117-120
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:

Author:

Hall Charles A.

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1992.tb06410.x/fullpdf

Reference23 articles.

1. Cobalamin and the nervous system;Beck;New England Journal of Medicine,1988

2. Human plasma R-type vitamin B12-binding proteins;Burger;Journal of Biological Chemistry,1975

3. Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient;Burman;British Journal of Haematology,1979

4. Inherited deficiency of transcobolamin II in a Spanish woman;Gimferrer;Biologia y Clinica Hematologica,1981

Cited by 46 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency;Journal of Pediatric Endocrinology and Metabolism;2024-03-05

2. “Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene”;Molecular Genetics & Genomic Medicine;2023-10-06

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

4. A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency;BMC Pediatrics;2022-04-29

5. 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

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