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Peer review fraud—it's not big and it's not clever JOURNAL ARTICLE published January 2016 in Journal of Inherited Metabolic Disease |
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype JOURNAL ARTICLE published May 1999 in Journal of Inherited Metabolic Disease |
Issue Information JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease |
Bone mineral density is within normal range in most adult phenylketonuria patients JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease |
Concerning “Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies” by Marcé‐Grau et al JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease |
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry ( JOURNAL ARTICLE published 3 March 2024 in Journal of Inherited Metabolic Disease |
Perinatal Diagnosis of Type 1c Glycogen Storage Disease JOURNAL ARTICLE published April 1989 in Journal of Inherited Metabolic Disease |
Abnormalities of human sex determination JOURNAL ARTICLE published July 1992 in Journal of Inherited Metabolic Disease |
Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial JOURNAL ARTICLE published November 2017 in Journal of Inherited Metabolic Disease Research funded by U.S. Food and Drug Administration (FD038950) |
Pathophysiology of fatty acid oxidation disorders JOURNAL ARTICLE published October 2010 in Journal of Inherited Metabolic Disease |
Progress in understanding 2‐hydroxyglutaric acidurias JOURNAL ARTICLE published July 2012 in Journal of Inherited Metabolic Disease |
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience JOURNAL ARTICLE published July 2016 in Journal of Inherited Metabolic Disease |
The effectiveness of enzyme replacement therapy for juvenile‐onset Pompe disease: A systematic review JOURNAL ARTICLE published January 2019 in Journal of Inherited Metabolic Disease |
Phenylketonuria, co‐morbidity, and ageing: A review JOURNAL ARTICLE published March 2020 in Journal of Inherited Metabolic Disease |
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases JOURNAL ARTICLE published May 2020 in Journal of Inherited Metabolic Disease |
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria JOURNAL ARTICLE published July 2020 in Journal of Inherited Metabolic Disease Research funded by FP7 Ideas: European Research Council (304985) |
A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands JOURNAL ARTICLE published September 2019 in Journal of Inherited Metabolic Disease |
Anaplerotic diet therapy in inherited metabolic disease: Therapeutic potential JOURNAL ARTICLE published April 2006 in Journal of Inherited Metabolic Disease |
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision JOURNAL ARTICLE published May 2023 in Journal of Inherited Metabolic Disease |
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021 JOURNAL ARTICLE published March 2022 in Journal of Inherited Metabolic Disease |