Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 253-257

  Léticée, Nadia ^a   Bessières Grattagliano, Bettina ^b   Dupré, Thierry ^c   Vuillaumier Barrot, Sandrine ^c   de Lonlay, Pascale ^a,e   Razavi, Ferechté ^a,e   El Khartoufi, Nadia ^a   Ville, Yves ^a,e   Vekemans, Michel ^a,e   Bouvier, Raymonde ^d   Seta, Nathalie ^c,e   Attié Bitach, Tania ^a,e  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Institut de Puericulture   (France)

^c BICHAT HOSPITAL   (France)

^d HOSPICES CIVILS DE LYON   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Congenital disorder of glycosylation; Fetal pathology; In utero fetal death; Non immune hydrops fetalis; Prenatal diagnosis

Indexed keywords

PHOSPHOMANNOMUTASE; TRANSFERRIN;

ANEMIA; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; EARLY DIAGNOSIS; ENZYME ACTIVITY; FETUS; FETUS HYDROPS; GESTATIONAL AGE; HUMAN; INBORN ERROR OF METABOLISM; LEUKOCYTE; LIVER FAILURE; LYSOSOME STORAGE DISEASE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; HUMANS; HYDROPS FETALIS; LYSOSOMAL STORAGE DISEASES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PREGNANCY;

EID: 77957240700     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.06.009     Document Type: Article

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