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Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy JOURNAL ARTICLE published July 2022 in Journal of Inherited Metabolic Disease |
Issue Information JOURNAL ARTICLE published May 2019 in Journal of Inherited Metabolic Disease |
JOURNAL ISSUE published May 2019 in Journal of Inherited Metabolic Disease |
Neurometabolic hereditary diseases of adults JOURNAL ARTICLE published March 2019 in Journal of Inherited Metabolic Disease |
Lipid biomarkers of oxidative stress in a genetic mouse model of Smith‐Lemli‐Opitz syndrome JOURNAL ARTICLE published January 2013 in Journal of Inherited Metabolic Disease Research funded by National Institutes of Health (ES013125,HD064727,MH079299) |
Fetal and neonatal bile acid synthesis and metabolism — Clinical implications JOURNAL ARTICLE published July 1991 in Journal of Inherited Metabolic Disease |
Transplantation as disease modifying therapy in adults with inherited metabolic disorders JOURNAL ARTICLE published September 2018 in Journal of Inherited Metabolic Disease |
Further analysis of the disturbed adrenocortical function in the cerebro‐hepato‐renal syndrome of zellweger JOURNAL ARTICLE published December 1989 in Journal of Inherited Metabolic Disease |
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum JOURNAL ARTICLE published December 1999 in Journal of Inherited Metabolic Disease |
Multicompartment analysis of protein‐restricted phenylketonuric mice reveals amino acid imbalances in brain JOURNAL ARTICLE published March 2017 in Journal of Inherited Metabolic Disease |
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding JOURNAL ARTICLE published May 2021 in Journal of Inherited Metabolic Disease |
Determination of cystathionine beta‐synthase activity in human plasma by LC‐MS/MS: potential use in diagnosis of CBS deficiency JOURNAL ARTICLE published February 2011 in Journal of Inherited Metabolic Disease Research funded by Ministerstvo Zdravotnictví Ceské Republiky (MZ0VFN2005) |
Experience with the treatment of argininosuccinic aciduria during pregnancy JOURNAL ARTICLE published December 2009 in Journal of Inherited Metabolic Disease |
Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A JOURNAL ARTICLE published November 2007 in Journal of Inherited Metabolic Disease |
A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling JOURNAL ARTICLE published June 1983 in Journal of Inherited Metabolic Disease |
Acute hereditary tyrosinaemia type I: Clinical, biochemical and haematological studies in twins JOURNAL ARTICLE published December 1981 in Journal of Inherited Metabolic Disease |
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes JOURNAL ARTICLE published November 2012 in Journal of Inherited Metabolic Disease |
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation JOURNAL ARTICLE published September 2005 in Journal of Inherited Metabolic Disease |
Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype JOURNAL ARTICLE published September 1997 in Journal of Inherited Metabolic Disease |
The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders JOURNAL ARTICLE published July 2016 in Journal of Inherited Metabolic Disease |