Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
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.Cochlear Homocysteine Metabolism at the Crossroad of Nutrition and Sensorineural Hearing Loss.Optimization and validation of a reversed-phase high performance liquid chromatography method for the measurement of bovine liver methylmalonyl-coenzyme a mutase activityPrenatal 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.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.Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.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.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.Increased ER stress as a mechanism of retinal neurovasculopathy in mice with severe hyperhomocysteinemia.Alterations of retinal vasculature in cystathionine-β-synthase heterozygous mice: a model of mild to moderate hyperhomocysteinemiaEfficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria
P2860
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P2860
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Combined methylmalonic acidemi ...... pathophysiology, and outcomes.
@ast
Combined methylmalonic acidemi ...... pathophysiology, and outcomes.
@en
type
label
Combined methylmalonic acidemi ...... pathophysiology, and outcomes.
@ast
Combined methylmalonic acidemi ...... pathophysiology, and outcomes.
@en
prefLabel
Combined methylmalonic acidemi ...... pathophysiology, and outcomes.
@ast
Combined methylmalonic acidemi ...... pathophysiology, and outcomes.
@en
P2860
P1476
Combined methylmalonic acidemi ...... pathophysiology, and outcomes
@en
P2093
Charles P Venditti
P2860
P2888
P304
P356
10.1007/S10545-011-9365-X
P577
2011-07-12T00:00:00Z