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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal recessive 71"
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The phenylketonuria patient: A recent dietetic therapeutic approach.
Manta-Vogli PD, Dotsikas Y, Loukas YL, Schulpis KH. Manta-Vogli PD, et al. Nutr Neurosci. 2020 Aug;23(8):628-639. doi: 10.1080/1028415X.2018.1538196. Epub 2018 Oct 25. Nutr Neurosci. 2020. PMID: 30359206 Review.
Phenylalanine hydroxylase (PAH) deficiency, commonly named phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism inherited with an autosomal recessive trait. It is characterized by high blood and cerebral Phe levels, resulting in intellectu …
Phenylalanine hydroxylase (PAH) deficiency, commonly named phenylketonuria (PKU) is a disorder of phenylalanine (Phe) metabolism inhe …
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
Malekkou A, Tomazou M, Mavrikiou G, Dionysiou M, Georgiou T, Papaevripidou I, Alexandrou A, Sismani C, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. BMC Med Genomics. 2024 Mar 25;17(1):78. doi: 10.1186/s12920-024-01846-2. BMC Med Genomics. 2024. PMID: 38528593 Free PMC article.
Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical spectrum of affected individuals is wide ranging from asymptomatic to severely affected patients presenting with intellectual disabi …
Deleterious variants in the DPYD gene cause DPD deficiency, a rare autosomal recessive disorder. The clinical sp …
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH. Suh S, et al. Eur J Med Genet. 2012 Jan;55(1):71-4. doi: 10.1016/j.ejmg.2011.08.003. Epub 2011 Sep 16. Eur J Med Genet. 2012. PMID: 21958693
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. ...
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP2 …