Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing

JC Kim, NC Lee, PWL Hwu, YH Chien… - Molecular genetics and …, 2012 - Elsevier
Inborn errors of vitamin B12 (cobalamin) metabolism are characterized by decreased
production of active cobalamin cofactors and subsequent deficiencies in the activities of …
被引用次数：43 相关文章 所有 6 个版本

A Patient With an Inborn Error of Vitamin B12 Metabolism (cblF) Detected by Newborn Screening

CM Armour, A Brebner, D Watkins, MT Geraghty… - …, 2013 - publications.aap.org
A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated
propionylcarnitine on newborn screening, was subsequently identified as having the rare …
被引用次数：24 相关文章 所有 3 个版本
[PDF] researchgate.net

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes …

M Pupavac, D Watkins, F Petrella… - Human …, 2016 - Wiley Online Library
ABSTRACT Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
被引用次数：37 相关文章 所有 4 个版本
[HTML] nejm.org

[HTML][HTML] Gene Identification for the cblD Defect of Vitamin B12 Metabolism

D Coelho, T Suormala, M Stucki… - … England Journal of …, 2008 - Mass Medical Soc
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways.
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
被引用次数：212 相关文章 所有 17 个版本
[HTML] nih.gov

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

C Atkinson, IR Miousse, D Watkins… - JIMD Reports, Volume …, 2014 - Springer
Disorders of intracellular cobalamin (vitamin B 12) metabolism result from deficient synthesis
of the coenzymes derived from vitamin B 12: adenosylcobalamin and methylcobalamin …
被引用次数：18 相关文章 所有 8 个版本

Lessons in biology from patients with inborn errors of vitamin B12 metabolism

D Watkins, DS Rosenblatt - Biochimie, 2013 - Elsevier
BACKGROUND: Since 1975 cells lines from patients with suspected inborn errors of vitamin
B12 metabolism have been referred to our laboratory because of elevations of …
被引用次数：40 相关文章 所有 5 个版本

Inborn errors of cobalamin absorption and metabolism

D Watkins, DS Rosenblatt - … Journal of Medical Genetics Part C …, 2011 - Wiley Online Library
Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …
被引用次数：231 相关文章 所有 6 个版本

Cobalamin C defect: natural history, pathophysiology, and treatment

D Martinelli, F Deodato, C Dionisi-Vici - Journal of inherited metabolic …, 2011 - Springer
Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …
被引用次数：156 相关文章 所有 15 个版本

Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism

E Moras, A Hosack, D Watkins… - Molecular genetics and …, 2007 - Elsevier
Inborn errors of vitamin B12 (cobalamin, Cbl) metabolism are autosomal recessive disorders
and have been classified into nine distinct complementation classes (cblA-cblH and mut) …
被引用次数：18 相关文章 所有 5 个版本
[PDF] nih.gov

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

D Watkins, N Matiaszuk, DS Rosenblatt - Journal of medical genetics, 2000 - jmg.bmj.com
AIM To investigate genetic heterogeneity within the cblA class of inborn error of cobalamin
metabolism. CONTEXT The cblA disorder is characterised by vitamin B12 (cobalamin) …
被引用次数：89 相关文章 所有 7 个版本