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JIMD Reports|November 8, 2024
Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiencyPatrícia Lipari Pinto, Marjorie Dixon, Sniya Sudhakar, et al.Human Mutation|March 26, 2003
The molecular basis of phenylalanine hydroxylase deficiency in CroatiaJohannes Zschocke, Astrid Preusse, Vladimir Sarnavka, et al.Journal of Computer Assisted Tomography|September 24, 2010
Magnetic resonance findings in a neonate with nonketotic hyperglycinemia: case reportMarko Culjat, Vesna Benjak, Andrea Dasovic-Buljevic, et al.Journal of Human Genetics|November 8, 2005
Studies of S-adenosylhomocysteine-hydrolase polymorphism in a Croatian populationDoris Kloor, Ksenija Fumic, Sebastian Attig, et al.The Journal of Investigative Dermatology|May 2, 2002
Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndromeCristina Has, Udo Seedorf, Frank Kannenberg, et al.Electrophoresis|July 7, 2011
Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiencyMirela Sedic, Sandra Kraljevic Pavelic, Mario Cindric, et al.Genes|August 26, 2022
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical PracticeAntonela Blazekovic, Kristina Gotovac Jercic, Sarah Meglaj, et al.Cold Spring Harbor Molecular Case Studies|July 15, 2022
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathyAles Maver, Tamara Zigman, Ashraf Yusuf Rangrez, et al.Brain : a Journal of Neurology|May 13, 2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type IInga Harting, Eva Neumaier-Probst, Angelika Seitz, et al.Neurology. Genetics|April 12, 2016
Respiratory chain deficiency in nonmitochondrial diseaseAngela Pyle, Helen J Nightingale, Helen Griffin, et al.Pageof 3