Results 141 to 150 of about 31,184 (250)
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients [PDF]
, 2018 Phenylketonuria (PKU, MIM 261600) is an autosomal recessive disorder caused by mutations of the phenylalanine hydroxylase gene (PAH, GenBank U49897.1, RefSeq NM_000277). To date more than 560 variants of the PAH gene have been identified. In Europe there
Brunner-Krainz, Michaela +12 more
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Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory Analysis [PDF]
, 1969 Silvana K. Rampini +3 more
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Assessment of Metabolic Parameters For Autism Spectrum Disorders [PDF]
, 2009 Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain.
Ghosh, S +4 more
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Fenilcetonúria e suas variantes: revisão bibliográfica [PDF]
, 2008 A fenilcetonúria representa o erro do metabolismo dos aminoácidos mais comum na população caucasiana, atingindo 1/10.000 nascimentos. Esta doença, de transmissão autossómica recessiva, resulta da deficiência em fenilalanina hidroxilase ou de erros no ...
Cardoso, Inês Lopes, Machado, Joana
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Megaloblastic Anaemia Complicating Dietary Treatment of Phenylketonuria in Infancy [PDF]
, 1962 N. J. W. Royston, T. E. Parry
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Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle [PDF]
, 2018 Current therapy for phenylketonuria (PKU) consists of life-long dietary restriction of phenylalanine (Phe), which presents problems of adherence for patients.
Thöny, Beat
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PHENYLKETONURIA IN A MULE DEER (Odocoileus hemionus) [PDF]
, 1968 Eugene H. Studier, William G. Ewing
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Molecular Genetics and Metabolism Reports, 2019 Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki +3 more
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