A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screening for creatine, creatinine and urinary guanidino...
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Amaltea Medical Publishing House,
2022-05-01T00:00:00Z.
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A1234.567 |
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| Kopie 1 | Beschikbaar |