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Journal of Inherited Metabolic Disease|May 14, 2014
Treatment of lysosomal storage disorders: successes and challengesCarla E M Hollak, Frits A WijburgJournal of Inherited Metabolic Disease|November 20, 2012
Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatmentYoshitaka Seki, Tatsuki Mizuochi, Akihiko Kimura, et al.Journal of Inherited Metabolic Disease|September 13, 2014
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type IRoland Posset, Silvana Opp, Eduard A Struys, et al.Journal of Inherited Metabolic Disease|September 17, 2014
Large animal models and new therapies for glycogen storage diseaseElizabeth D Brooks, Dwight D KoeberlJournal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Prenatal diagnosis of disorders of galactose metabolismJ B Holton, J T Allen, M G GillettJournal of Inherited Metabolic Disease|January 1, 1989
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year surveyJ M Saudubray, H Ogier, J P Bonnefont, et al.Journal of Inherited Metabolic Disease|January 1, 1989
A clinician's view of the mass screening of the newborn for inherited diseases: current practice and future considerationsI B Sardharwalla, J E WraithJournal of Inherited Metabolic Disease|January 1, 1989
Genetic aspects of prenatal diagnosisJ M ConnorJournal of Inherited Metabolic Disease|January 1, 1989
Obstetric aspects of prenatal diagnostic methodsM J Whittle, D H Gilmore, M B McNayPageof 429