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Molecular Genetics and Metabolism|July 22, 2022
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiencyM Goetz, J Schröter, T Dattner, et al.
Journal of Inherited Metabolic Disease|January 24, 2002
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme levelA B Van Kuilenburg, H Van Lenthe, B Assmann, et al.
Neuropediatrics|April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathyV Peters, J M Penzien, G Reiter, et al.
European Journal of Pediatrics|January 25, 2002
Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndromeM A Willemsen, M A Lutt, P M Steijlen, et al.
The Journal of Pediatrics|February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapyC Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|December 5, 2008
Diagnostic difficulties in glucokinase hyperinsulinismT Meissner, J Marquard, N Cobo-Vuilleumier, et al.
American Journal of Human Genetics|June 13, 1998
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patientsD Beltrán-Valero de Bernabé, B Granadino, I Chiarelli, et al.
Annals of Human Genetics|April 3, 2001
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorderR J Janssen, R A Wevers, M Häussler, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 15, 1991
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detectionG F Hoffmann, L Sweetman, H J Bremer, et al.
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