Gas-liquid chromatographic determination of galactitol in amniotic fluid for possible use in prenatal diagnosis of galactosaemia
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference9 articles.
1. Galactitol in the tissues of a galactosaemic child;Quan-Ma;Am. J. Dis. Childh.,1966
2. Prenatal diagnosis of galactosaemia;Ng;Clin. Chim. Acta,1977
3. Evidence of galactosaemia in utero;Allen;Lancet,1980
4. Quantitative analysis of serum and urine sugars by gas chromatography;Wells;Clin. Chim. Acta,1964
5. Increased mannitol excretion in controlled hereditary galactosaemia;Blau;Clin. Chim. Acta,1972
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1. Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants;Journal of Inherited Metabolic Disease;2019-08-12
2. Galactokinase Deficiency: A Case Report;Journal of Pediatric Ophthalmology & Strabismus;2002-01
3. Classical Galactosemia;The Endocrinologist;1995-05
4. Prenatal diagnosis of galactosemia;European Journal of Pediatrics;1995-02
5. Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future;Prenatal Diagnosis;1990-04
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