Publications
- Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families2007 | Faculty of Physical Education and Sport
- A Case of Excessive Autophagocytosis with Multiorgan Involvment and Low Clinical Penetrance2007 | Faculty of Physical Education and Sport
- Novel human pathological mutations2007 | Faculty of Physical Education and Sport
- Genetic and clinical features of patients with Gaucher disease in Hungary2007 | Faculty of Physical Education and Sport
- X-linked Adrenoleukodystrophy in Twenty One Czech Patients2006 | Faculty of Physical Education and Sport
- Post-exercise acute rhabdomyolysis - benign sign or symptom of serious muscular disease?2006 | Faculty of Physical Education and Sport
- A metabolic and molecular study in five girls with OTC disorder2001 | Faculty of Physical Education and Sport
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