Results 101 to 110 of about 32,659 (306)
Histopathological Effects on the Eye Development During Perinatal Growth of Albino Rats Maternally Treated with Experimental Phenylketonuria During Pregnancy [PDF]
, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala) +3 more
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Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]
, 2019 Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver +2 more
core +2 more sources
Developmental Neuropsychology, 2016 This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU).
Deborah A Bilder +7 more
semanticscholar +1 more source
LOW-PROTEIN PASTA FOR CHILDREN PATIENTS WITH PHENYLKETONURIA
Пищевые системы, 2019 There are provided data on the work carried out at All-Russian Research Institute for Starch Products to create enriched low-protein pasta based on starch for nutrition the children sick with a phenilketonuria — a hereditary disease (group of ...
S. T. Bykova, T. G. Kalinina
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to evaluate the real‐world effectiveness and tolerability of first‐line antiseizure medication (ASM) monotherapy in children with newly diagnosed epilepsy, focusing on comparative outcomes across developmental age groups and ASM types, and identifying clinical risk factors of treatment failure.
Ningshan Li +7 more
wiley +1 more source
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients
The Turkish Journal of Pediatrics, 1993 The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript.
M Ozgüç +5 more
doaj
Taiwanese Journal of Obstetrics & Gynecology, 2005 Objective: To share our experience of prenatal classical phenylketonuria (PKU) diagnosis using the polymerase chain reaction (PCR), automatic sequencing, and linkage analysis with short tandem repeats (STRs).
Wei-Min Hu +5 more
doaj +1 more source
, 2004 Genome research is emerging as a new and important tool in biology used to obtain information on gene sequences, genomic interaction, and how genes work in concert to produce the final syndrome or phenotype. Defect in phenylalanine hydroxylase (PAH) gene
Matalon, Reuben +3 more
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International Social Science Journal, EarlyView.ABSTRACT Feeding and swallowing disorders (FSDs) are common in both typically developing children and those with complex medical or developmental needs, leading to health issues and significant strain on parents/caregivers. This study aimed to translate and adapt the Feeding and Swallowing Impact Survey into Greek, providing a validated tool to assess ...
Andri Papaleontiou +5 more
wiley +1 more source
The Iowa Perinatal Letter, April-May-June 2008, Vol. 29, no. 2 [PDF]
, 2008 This newsletter from The Department of Public Health about perinatal health care and ...
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