A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

Gangliosidoses (GM1 and GM2 gangliosidosis) are rare, autosomal recessive progressive neurodegenerative lysosomal storage disorders caused by defects in the degradation of glycosphingolipids. We aimed to investigate clinical, biochemical and molecular genetic spectrum of Turkish patients with infant...

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Veröffentlicht in:	Metabolic brain disease 2019-04, Vol.34 (2), p.495-503
Hauptverfasser:	Kılıç, Mustafa, Kasapkara, Çiğdem Seher, Kılavuz, Sebile, Mungan, Neslihan Önenli, Biberoğlu, Gürsel
Format:	Artikel
Sprache:	eng
Schlagworte:	Alanine Alanine transaminase Aspartate Aminotransferases - drug effects Aspartate Aminotransferases - metabolism Aspartate transaminase Biochemistry Biomarkers Biomarkers - analysis Biomedical and Life Sciences Biomedicine Diagnosis Diagnostic systems Female Gangliosidoses - drug therapy Gangliosidoses, GM2 - drug therapy Gangliosidosis Gangliosidosis, GM1 - drug therapy Glycosphingolipids Humans Lysosomal storage diseases Male Metabolic Diseases Neurology Neurosciences Oncology Original Article Patients Retrospective Studies Sandhoff Disease - drug therapy Transaminase
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