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The Turkish Journal of Pediatrics|December 3, 2002
Neonatal onset propionic acidemia without acidosis: a case reportIpek Akman, Sebahat Imamoğlu, Mübeccel Demirkol, et al.
Molecular Genetics and Metabolism|June 16, 2012
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11Caroline Heintz, Steven F Dobrowolski, Henriette Skovgaard Andersen, et al.
Cardiology in the Young|June 25, 2026
Familial hypercholesterolaemia in children: diagnostic profile and factors influencing diagnosis in a tertiary referral centreGülşah Kavrul Kayaalp, Mehmet Cihan Balcı, Dilek Kürkçü Güneş, et al.
The Turkish Journal of Pediatrics|October 3, 2007
Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and IIIEnsar Yekeler, Memduh Dursun, Eda Emeksiz, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 28, 2013
Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometryNils Janzen, Michael Terhardt, Stefanie Sander, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 2, 2010
Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC)Johannes Sander, Nils Janzen, Michael Terhardt, et al.
Molecular Genetics and Metabolism|October 6, 2009
Management of phenylketonuria in Europe: survey results from 19 countriesNenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, et al.
The Turkish Journal of Pediatrics|June 2, 2009
Molecular genetics of maple syrup urine disease in the Turkish populationKerstin Gorzelany, Ali Dursun, Turgay Coşkun, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 29, 2026
Factors affecting the success of follow-up and treatment of adults with phenylketonuria diagnosed by newborn screeningZelal Tandoğan, Asuman Gedikbaşı, Alihan Yeşil, et al.
Molecular Genetics and Metabolism|February 12, 2009
Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuriaNenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, et al.
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