Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
about
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss.Production and characterization of novel recombinant adeno-associated virus replicative-form genomes: a eukaryotic source of DNA for gene transfer.Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionPrenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHCCobalamin C deficiency in an adolescent with altered mental status and anorexiaWhole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencyOphthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Cobalamin coenzyme forms are not likely to be superior to cyano- and hydroxyl-cobalamin in prevention or treatment of cobalamin deficiency.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.Comparative Bioavailability and Utilization of Particular Forms of B12 Supplements With Potential to Mitigate B12-related Genetic Polymorphisms.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.Methylmalonic Acidemia Diagnosis by Laboratory Methods.Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) PatientAtypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.A child presenting with severe hypertension and circulatory failure-a diagnostic conundrum: Answers.Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuriaImpact of pregnancy on inborn errors of metabolism
P2860
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P2860
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@ast
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@en
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@nl
type
label
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@ast
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@en
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@nl
prefLabel
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@ast
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@en
Combined methylmalonic acidemi ...... ons, diagnosis and management.
@nl
P2860
P1476
Combined methylmalonic acidemi ...... ions, diagnosis and management
@en
P2093
Charles P Venditti
P2860
P2888
P304
P356
10.1007/S10545-011-9364-Y
P577
2011-07-12T00:00:00Z
P5875
P6179
1040490339