Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation

Journal of Inherited Metabolic Disease

Volumn 24, Issue 1, 2001, Pages 79-80

  Briones, P ^a   Giros M ^a   Martinez, V ^b  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b HOSPITAL VEGA BAJA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTITOL; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; CAUCASIAN; DIET; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GALACTOSEMIA; GENE MUTATION; GENOTYPE; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; NEUROLOGIC DISEASE; OUTCOMES RESEARCH; OVARY INSUFFICIENCY; PARTHENOGENESIS; PHENOTYPE; PREGNANCY; PROGNOSIS; SYMPTOM;

ADULT; FEMALE; GALACTOSEMIAS; HUMANS; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0035104139     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005667024606     Document Type: Article

References (5)

1. Spontaneous pregnancy in a patient with classical galactosaemia
2. A further pregnancy in a woman with classic galctosemia who delivered triplets followed by premature ovarian failure
3. Galactosaemia
4. Disorders of galactose metabolism
5. Classical galactosaemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene