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Pediatrics|July 14, 2010
Challenges and pitfalls in the management of phenylketonuriaFrançois Feillet, Francjan J van Spronsen, Anita MacDonald, et al.
Journal of Inherited Metabolic Disease|May 10, 2014
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patientsSven F Garbade, Cheryl R Greenberg, Mübeccel Demirkol, et al.
American Journal of Medical Genetics|November 20, 2002
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patientsMehmet Okyay Kilinç, Vasiliki Ninidu Ninis, Elif Dağli, et al.
Molecular Genetics and Metabolism|December 15, 2010
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU populationSteven F Dobrowolski, Caroline Heintz, Trent Miller, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|June 18, 2019
Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiencyAylin Yetim, Erhan Aygün, Çağcıl Yetim, et al.
JIMD Reports|November 15, 2024
Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literatureArzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, et al.
European Journal of Pediatrics|December 7, 2014
Management of adult patients with phenylketonuria: survey results from 24 countriesFriedrich K Trefz, Francjan J van Spronsen, Anita MacDonald, et al.
Molecular Genetics and Metabolism|July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiencySarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.
Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.
Journal of Inherited Metabolic Disease|May 31, 2015
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiencyMartina Huemer, Regina Mulder-Bleile, Patricie Burda, et al.
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