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Journal of Inherited Metabolic Disease|January 25, 2023
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutationAmit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, et al.Journal of Inherited Metabolic Disease|January 5, 2002
Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophyM E Rubio-Gozalbo, D A van Waardenburg, P P Forget, et al.Journal of Inherited Metabolic Disease|January 5, 2002
Gene therapy for Fabry diseaseC Siatskas, J A MedinJournal of Inherited Metabolic Disease|January 5, 2002
Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?I MaireJournal of Inherited Metabolic Disease|January 5, 2002
Cardiac manifestations in Fabry diseaseA Linhart, J C Lubanda, T Palecek, et al.Journal of Inherited Metabolic Disease|January 5, 2002
Clinically relevant therapeutic endpoints in type I Gaucher diseaseC E Hollak, M Maas, J M AertsJournal of Inherited Metabolic Disease|January 1, 1978
Diagnosis of the mucopolysaccharidoses using cultured skin fibroblasts and amniotic fluid cellsJ ButterworthJournal of Inherited Metabolic Disease|January 24, 2002
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonatesE Pronicka, D H Piekutowska-Abramczuk, E Popowska, et al.Journal of Inherited Metabolic Disease|January 24, 2002
Self-rated psychosocial consequences and quality of life in the acute porphyriasL M Millward, P Kelly, A Deacon, et al.Journal of Inherited Metabolic Disease|April 5, 2001
Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotesM Potter, J W Hammond, K G Sim, et al.Pageof 429