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Background Currently, chromosomal microarrays (CMA) are recommended as first-tier test
in the investigation of developmental disorders to examine copy number variations. The …

Glutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no
pharmacological treatments. A novel strategy to treat this disease is to divert the toxic …

Inherited metabolic diseases (IMDs), comprise a large class of genetic diseases affecting the
metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for …

Vasospasm is a potentially preventable cause of poor prognosis in patients with aneurysmal
subarachnoid hemorrhage (aSAH). Epigenetics might provide insight on its molecular …

Introduction: Trichothiodystrophy type 4 and glutaric aciduria type 3 are rare autosomal
recessive disorders caused by biallelic variants in the MPLKIP and SUGCT genes on …

Background Biochemical testing is a common first-tier approach in the setting of genetic
evaluation of patients with unexplained developmental delay. However, results can be …

Abstract Background Trichothiodystrophy nonphotosensitive 1 (TTDN1) is a disease with
mental retardation, brittle hair. Some cases of the diseases are caused by mutations of the …

Abstract Glutaric Aciduria Type 1 (GA1) is a serious inborn error of metabolism with no
pharmacological treatments. A novel strategy to treat this disease is to divert the toxic …

Objetivo: determinar las variantes en el número de copias y regiones de homocigosidad
mediante el análisis cromosómico por micromatrices, en niños con diagnóstico de trastorno …