Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Item
http://www.wikidata.org/entity/Q33417443
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachQIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver diseaseLPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderLoss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseTransient neonatal renal failure and massive polyuria in MEGDEL syndrome.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
P2860

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Item
http://www.wikidata.org/entity/Q33417443
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@ast
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@en
type
label
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@ast
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@en
prefLabel
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@ast
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698