Phenylketonuria is inherited in an autosomal recessive pattern and is due to a mutation in the PAH gene 6. The mutation results in a deficiency of the hepatic ...
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This patient is a known case phenylketonuria (PKU) who has been "off-diet" for 20 years. The periventricular T2 changes reportedly show some reversibility with ...
Jun 29, 2014 · This patient is a known case phenylketonuria (PKU) who has been "off-diet" for 20 years. The periventricular T2 changes reportedly show some ...
May 29, 2014 · Used in the following article: Phenylketonuria - “ Phenylketonuria (PKU) is an inborn error of metabolism resulting from abnormal metabolism of ...
Articles · Cases. 1 result found. Case. Phenylketonuria ... Imaging Technology · Interventional Radiology · Mnemonics ... Radiopaedia.org · About · Blog · Feature ...
Phenylketonuria: An Inborn Error of Phenylalanine Metabolism - NCBI
www.ncbi.nlm.nih.gov › PMC2423317
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH).
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Mar 22, 2024 · Metachromatic leukodystrophy is classified as a dysmyelinating disease and carries an autosomal recessive inheritance. It arises from a ...
Jan 18, 2024 · Epidemiology. Canavan disease is prevalent in the Ashkenazi Jewish community 1. The carrier frequency among the Ashkenazi ranges from 1:37 ...
May 20, 2021 · Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine ...
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Apr 23, 2024 · Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the accumulation of cerebral amyloid-β (Aβ) in the tunica media ...