Prenatal diagnosis of Krabbe disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1981.tb01813.x/fullpdf
Reference17 articles.
1. The use of natural and artificial substrates in the prenatal diagnosis of Krabbe's disease;Besley;J. inher. metab. Dis.,1978
2. Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide β-galactosidase and nonspecific β-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells;Besley;J. med. Genet.,1976
3. Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts;Farrell;Amer. J. hum. Genet.,1973
4. Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus;Farrell;J. Neurol. Neurosurg. Psychiat.,1978
5. A practical chromogenic procedure for the diagnosis of Krabbe disease;Gal;Clin. Chim. Acta.,1977
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1. History, genetic, and recent advances on Krabbe disease;Gene;2015-01
2. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review;Journal of Inherited Metabolic Disease;2012-11-30
3. Other Neurological Disorders;Developmental Medicine & Child Neurology;2008-11-12
4. A catalogue of multiple congenital anomaly syndromes;Multiple Congenital Anomalies;1991
5. Krabbe's disease: First trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues;Prenatal Diagnosis;1987-06
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