A case of fatal Type i congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Sabry, S ^a,b,c,d   Vuillaumier Barrot, S ^a,b,e   Mintet, E ^a,b   Fasseu, M ^a,b   Valayannopoulos, V ^f   Heron D ^c,g   Dorison, N ^c   Mignot, C ^c,g,h   Seta, N ^b,e   Chantret, I ^a,b   Dupre T ^a,b,e   Moore, S E H ^a,b  

^a CENTRE DE RECHERCHE SUR L INFLAMMATION   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d NATIONAL RESEARCH CENTRE   (Egypt)

^e BICHAT HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

Dolichol linked oligosaccharide; Endoplasmic reticulum; Protein N glycosylation; Retinitis pigmentosa

Indexed keywords

DEHYDRODOLICHOL DIPHOSPHATE SYNTHASE; DNA; DOLICHOL LINKED OLIGOSACCHARIDE; GLYCOPROTEIN; MANNOSE; MESSENGER RNA; OLIGOSACCHARIDE; SMALL INTERFERING RNA; TRANSFERASE; UNCLASSIFIED DRUG; DEHYDRODOLICHOL; DEHYDRODOLICHYL DIPHOSPHATE SYNTHETASE; DOLICHOL; POLYSACCHARIDE;

ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONTROLLED STUDY; CRYPTORCHISM; DEHYDRODOLICHOL DIPHOSPHATE SYNTHASE GENE; DNA SEQUENCE; DOWN REGULATION; ENZYME ACTIVITY; EXON; FIBROBLAST; GENE; GENE EXPRESSION; HEPATOMEGALY; HEPG2 CELL LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; INTRON; MALE; MICROPENIS; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NONSENSE MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; THIN LAYER CHROMATOGRAPHY; ANALOGS AND DERIVATIVES; BLOOD; CHEMISTRY; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYMOLOGY; GENETICS; GLYCOSYLATION; HEP-G2 CELL LINE; METABOLISM; MUTATION; NEWBORN; SKIN;

ALKYL AND ARYL TRANSFERASES; CHROMATOGRAPHY, THIN LAYER; CONGENITAL DISORDERS OF GLYCOSYLATION; DOLICHOL; EXONS; GLYCOPROTEINS; GLYCOSYLATION; HEP G2 CELLS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; OLIGOSACCHARIDES; POLYSACCHARIDES; RNA, SMALL INTERFERING; SKIN;

EID: 84975860567     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0468-1     Document Type: Article

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