Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Item
http://www.wikidata.org/entity/Q39830337
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancyGuidelines 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.Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria
P2860

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Item
http://www.wikidata.org/entity/Q39830337
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@en
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@nl
type
label
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@en
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@nl
prefLabel
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@en
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P577
P698
P356
P1433
P1476
Clinical, biochemical, and mol ...... teinemia (cblC type) in China.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P577
P698