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Journal of Inherited Metabolic Disease|February 10, 2011
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentrationEmma J Footitt, Simon J Heales, Philippa B Mills, et al.Journal of Inherited Metabolic Disease|April 8, 2006
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentationS Fecarotta, G Parenti, P Vajro, et al.Journal of Inherited Metabolic Disease|July 13, 2011
Natural history of alkaptonuria revisited: analyses based on scoring systemsLakshminarayan R Ranganath, Trevor F CoxJournal of Inherited Metabolic Disease|July 12, 2011
A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systemsTrevor F Cox, Lakshminarayan RanganathJournal of Inherited Metabolic Disease|July 18, 2018
Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurologyÀngels García-Cazorla, Jean-Marie SaudubrayJournal of Inherited Metabolic Disease|January 1, 1987
Inborn errors of cellular organelles: an overviewJ M TagerJournal of Inherited Metabolic Disease|July 1, 2026
Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis IMartin Donnelley, Ronan Smith, Patricia Cmielewski, et al.Journal of Inherited Metabolic Disease|July 6, 2026
Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation DeficiencyPranavi Hegde, Aakanksha Anand, Rita Rani, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villiR A Chalmers, B M Tracey, J Mistry, et al.Journal of Inherited Metabolic Disease|December 19, 2019
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spotsHeiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, et al.Pageof 429