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View article: Glycine <i>N</i>‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism
Glycine <i>N</i>‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism Open
The enzyme glycine N ‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjuga…
View article: Novel mutation in Patients with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
Novel mutation in Patients with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) Open
Background A rare type of autosomal recessive skeletal disorder known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal s…