1.
Ned Tijdschr Geneeskd
; 151(24): 1344, 2007 Jun 16.
Artigo
em Holandês
| MEDLINE
| ID: mdl-17665626
RESUMO
A 6-day-old girl presented with fever probably caused by a viral infection. As an unrelated chance finding she had a unilateral discolouration of the face and body: harlequin colour change.
Assuntos
Face/patologia , Transtornos da Pigmentação/patologia , Pigmentação da Pele , Feminino , Humanos , Recém-Nascido
2.
Mol Genet Metab
; 91(2): 201-4, 2007 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17395513
RESUMO
Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.
Assuntos
Proteínas Adaptadoras de Transporte Vesicular/deficiência , Proteínas Adaptadoras de Transporte Vesicular/genética , Transporte Biológico , Brefeldina A/farmacologia , Consanguinidade , Retículo Endoplasmático/metabolismo , Feminino , Fibroblastos/efeitos dos fármacos , Fibroblastos/metabolismo , Humanos , Cinética , Marrocos/etnologia , Ácido N-Acetilneuramínico/metabolismo , Polissacarídeos/metabolismo
3.
Acta Paediatr
; 95(4): 496; discussion 498-9, 2006 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16720502