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Journal of Inherited Metabolic Disease|January 1, 1978
A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease)K BlauJournal of Inherited Metabolic Disease|January 1, 1978
Aspartylglycosaminuria in Northern Norway in eight patients: clinical heterogeneity and variations with the dietO Borud, J H Strömme, S O Lie, et al.Journal of Inherited Metabolic Disease|January 5, 2002
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiencyG T Berry, T Fukao, G A Mitchell, et al.Journal of Inherited Metabolic Disease|January 1, 1978
Secondary metabolic changes in fibroblasts from six patients with hereditary lactic acidosisO Borud, J H StrømmeJournal of Inherited Metabolic Disease|April 5, 2001
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainI Wittig, P Augstein, G K Brown, et al.Journal of Inherited Metabolic Disease|April 5, 2001
Genetic analysis of phytosterolaemiaM Togo, T Toda, L A Nguyen, et al.Journal of Inherited Metabolic Disease|April 5, 2001
Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyriaU Gross, S Sassa, T Arndt, et al.Journal of Inherited Metabolic Disease|August 7, 2001
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometryS Stadler, K Gempel, I Bieger, et al.Journal of Inherited Metabolic Disease|August 7, 2001
Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: culturally permissible testing in the Mennonite communityL D Love-Gregory, J A Dyer, J Grasela, et al.Journal of Inherited Metabolic Disease|December 22, 1999
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemiaM Valtonen, K Näntö-Salonen, S Jääskeläinen, et al.Pageof 429