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Journal of Inherited Metabolic Disease|August 1, 1997
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activityS Vella, F Steiner, V Schlumbom, et al.Journal of Inherited Metabolic Disease|August 1, 1997
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)D S Rosenblatt, A L Aspler, M I Shevell, et al.Journal of Inherited Metabolic Disease|August 1, 1997
A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridineF R Manis, L B Cohn, C McBride-Chang, et al.Journal of Inherited Metabolic Disease|August 1, 1997
A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60P Briones, M A Vilaseca, A Ribes, et al.Journal of Inherited Metabolic Disease|August 1, 1997
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European originW J Kleijer, J L Keulemans, M van der Kraan, et al.Journal of Inherited Metabolic Disease|February 28, 2023
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter studyNathalie Guffon, Vassiliki Konstantopoulou, Julia B Hennermann, et al.Journal of Inherited Metabolic Disease|May 15, 2020
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profilesTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.Journal of Inherited Metabolic Disease|August 24, 2022
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiencyKatarina Šikić, Tessa M A Peters, Eugenija Marušić, et al.Journal of Inherited Metabolic Disease|March 26, 2023
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe diseaseAglina Lika, Eleni-Rosalina Andrinopoulou, Nadine A M E van der Beek, et al.Journal of Inherited Metabolic Disease|June 8, 2020
Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometryPeiling Su, Hamid Khaledi, Christine Waggoner, et al.Pageof 429