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Journal of Inherited Metabolic Disease|February 27, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional proteinSarah C Grünert, Matthias Eckenweiler, Dorothea Haas, et al.
Journal of Inherited Metabolic Disease|November 24, 2016
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomographyDaniela Choukair, Carolin Kneppo, Reinhard Feneberg, et al.
Orphanet Journal of Rare Diseases|April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disordersUlrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Orphanet Journal of Rare Diseases|January 27, 2012
Clinical and neurocognitive outcome in symptomatic isovaleric acidemiaSarah C Grünert, Udo Wendel, Martin Lindner, et al.
JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.
Human Mutation|October 16, 2007
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyMarcel R Zurflüh, Johannes Zschocke, Martin Lindner, et al.
Journal of Inherited Metabolic Disease|August 18, 2010
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European populationOlaf Sommerburg, Martin Lindner, Martina Muckenthaler, et al.
Pathology, Research and Practice|August 3, 2012
Noncompaction myocardium in association with type Ib glycogen storage diseaseBenjamin Goeppert, Martin Lindner, Monika Nadja Vogel, et al.
Biochimica Et Biophysica Acta|October 19, 2002
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiencyJürgen G Okun, Stefan Kölker, Andreas Schulze, et al.
Molecular Genetics and Metabolism|August 10, 2007
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?Mahmoud F Elsaid, Abdulbari Bener, Martin Lindner, et al.
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