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Pediatric Research|September 27, 2005
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disordersAndrea Schulze-Bergkamen, Jürgen G Okun, Ute Spiekerkötter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 26, 2016
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisisCarmen Diez-Fernandez, Véronique Rüfenacht, Saikat Santra, et al.
Journal of Inherited Metabolic Disease|September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screeningUlrike Mütze, Sven F Garbade, Florian Gleich, et al.
Reproductive Biomedicine Online|February 12, 2005
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in GermanyTanja Krones, Elmar Schlüter, Konstantin Manolopoulos, et al.
Orphanet Journal of Rare Diseases|May 31, 2012
Suggested guidelines for the diagnosis and management of urea cycle disordersJohannes Häberle, Nathalie Boddaert, Alberto Burlina, et al.
Archives of Neurology|August 16, 2006
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutationsPeter Freisinger, Nancy Fütterer, Erwin Lankes, et al.
Human Mutation|April 17, 2009
Molecular neonatal screening for homocystinuria in the Qatari populationJohannes Zschocke, Moustafa Kebbewar, Hongying Gan-Schreier, et al.
The Journal of Pediatrics|November 17, 2009
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cardsHongying Gan-Schreier, Moustafa Kebbewar, Junmin Fang-Hoffmann, et al.
Journal of Inherited Metabolic Disease|April 16, 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionJohannes Häberle, Alberto Burlina, Anupam Chakrapani, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|July 30, 2013
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populationsOlaf Sommerburg, Veronika Krulisova, Jutta Hammermann, et al.
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