Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
M Huemer, D Diodato, B Schwahn, M Schiff… - Journal of inherited …, 2017 - Springer
Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …
The clinical presentation of cobalamin‐related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways
M Huemer, MR Baumgartner - Journal of inherited metabolic …, 2019 - Wiley Online Library
This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
M Huemer, D Diodato, D Martinelli… - Journal of inherited …, 2019 - Wiley Online Library
Aim To explore the clinical presentation, course, treatment and impact of early treatment in
patients with remethylation disorders from the European Network and Registry for …
patients with remethylation disorders from the European Network and Registry for …
[HTML][HTML] Disorders of intracellular cobalamin metabolism
JL Sloan, N Carrillo, D Adams, CP Venditti - 2021 - europepmc.org
Disorders of intracellular cobalamin metabolism have a variable phenotype and age of
onset that are influenced by the severity and location within the pathway of the defect. The …
onset that are influenced by the severity and location within the pathway of the defect. The …
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and …
S Hu, S Mei, N Liu, X Kong - BMC medical genetics, 2018 - Springer
Background We sought to analyse MMACHC variants among 126 pedigrees with cobalamin
(cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger …
(cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger …
[HTML][HTML] Ophthalmic manifestations and long-term visual outcomes in patients with cobalamin C deficiency
Purpose To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn
error of intracellular vitamin B12 metabolism. Design Retrospective, observational case …
error of intracellular vitamin B12 metabolism. Design Retrospective, observational case …
The follow-up of Chinese patients in cblC type methylmalonic acidemia identified through expanded newborn screening
S Ling, S Wu, R Shuai, Y Yu, W Qiu, H Wei… - Frontiers in …, 2022 - frontiersin.org
Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an
inherited disorder with variable phenotypes, is included in newborn screening (NBS) …
inherited disorder with variable phenotypes, is included in newborn screening (NBS) …
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans
M Caterino, A Pastore, MG Strozziero… - Journal of Inherited …, 2015 - Wiley Online Library
Methylmalonic acidemia with homocystinuria, cobalamin deficiency type C
(cblC)(MMACHC) is the most common inborn error of cobalamin metabolism. Despite a …
(cblC)(MMACHC) is the most common inborn error of cobalamin metabolism. Despite a …
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
K Matmat, RM Guéant-Rodriguez, A Oussalah… - Human genetics, 2022 - Springer
Inherited disorders of cobalamin (cbl) metabolism (cblA-J) result in accumulation of
methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes …
methylmalonic acid (MMA) and/or homocystinuria (HCU). Clinical presentation includes …
Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series
S Wang, C Yan, B Wen, Y Zhao - Neuropsychiatric disease and …, 2019 - Taylor & Francis
Objective The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism. Late-
onset cblC disease was diagnosed in patients having overt symptoms after 4 years of age …
onset cblC disease was diagnosed in patients having overt symptoms after 4 years of age …