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Journal of Inherited Metabolic Disease|January 1, 1996
International database of tetrahydrobiopterin deficienciesN Blau, I Barnes, J L Dhondt
Journal of Inherited Metabolic Disease|January 1, 1996
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndromeG Salen, S Shefer, A K Batta, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Somatic gene therapy for phenylketonuria and other hepatic deficienciesR C Eisensmith, S L Woo
Journal of Inherited Metabolic Disease|January 1, 1996
Disorders of gluconeogenesisG van den Berghe
Journal of Inherited Metabolic Disease|January 1, 1996
Morphological studies of skeletal muscle in lactic acidosisN B Romero, A Lombès, G Touati, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Magnetic resonance imaging in lactic acidosisM S van der Knaap, C Jakobs, J Valk
Journal of Inherited Metabolic Disease|January 1, 1996
Neuropathology and pathogenesis of mitochondrial diseasesG K Brown, M V Squier
Journal of Inherited Metabolic Disease|January 1, 1995
First-trimester enzyme exclusion of Farber disease using a micromethod with [3H]ceramideV S Akhunov, S S Gargaun, X D Krasnopolskaya
Journal of Inherited Metabolic Disease|January 1, 1995
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage diseaseC L Maslen, D Babcock, D R Illingworth
Journal of Inherited Metabolic Disease|January 1, 1995
Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patientsV Leuzzi, G Trasimeni, G F Gualdi, et al.
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