Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
about
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyStructural Basis of Multifunctionality in a Vitamin B12-processing EnzymeAn X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesA Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.Inborn errors of cobalamin absorption and metabolism.Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes.Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.The X-ray crystal structure of glutathionylcobalamin revealed.Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression.The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionPathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.Prenatal 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.Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Hydroxocobalamin dose escalation improves metabolic control in cblC.Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN ReductasesStructural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiencySuccessful intrauterine treatment of a patient with cobalamin C defect.Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.Ophthalmic 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.Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type.Treatment of cobalamin C (cblC) deficiency during pregnancy.Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.C-terminal truncation of a bovine B(12) trafficking chaperone enhances the sensitivity of the glutathione-regulated thermostability.APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
P2860
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P2860
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@ast
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@en
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@nl
type
label
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@ast
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@en
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@nl
prefLabel
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@ast
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@en
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@nl
P2093
P356
P1433
P1476
Spectrum of mutations in MMACH ...... notype-phenotype correlations.
@en
P2093
Amanda D Loewy
Brian Fowler
Chantal F Morel
David Coelho
David S Rosenblatt
David Watkins
Elin Grundberg
Jordan P Lerner-Ellis
Junhui Liu
Martin Stucki
P304
P356
10.1002/HUMU.21001
P577
2009-07-01T00:00:00Z