Results 101 to 110 of about 18,914 (186)

International Survey on Phenylketonuria Newborn Screening

International Journal of Neonatal Screening
Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment.
Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham, Urh Grošelj   +16 more
doaj   +1 more source

Visual Evoked Potentials in Phenylketonuria

, 1995
Visual evoked potentials (VEPs) were studied in 36 patients with phenylketonuria, and compared with MRI findings, dietary state, and IQ at the Institute of Neurology, Queen Square, and the Institute of Child Health, Great Ormond Street Hospital, London ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Phenylketonuria in the General Population

, 1970
Because phenylketonuria was first recognized among severely retarded persons and their families, the finding of elevated serum phenylalanine concentrations has usually been equated with severe mental retardation.
Howell, R. Rodney, R. Rodney Howell
core   +1 more source

New Treatment for Phenylketonuria

, 1990
Sixteen adolescents and young adults with phenylketonuria were treated with a mixture of valine, isoleucine, and leucine for four 3-month periods, and biochemical and neuropsychological tests were carried out before and after treatment at the Metabolic ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Focus on rare diseases : The National Society for Phenylketonuria [PDF]

, 2019
Dr Michelle Muscat interviews Suzanne Ford, the Society Dietitian at The National Society for Phenylketonuria [NSPKU], in the UK.peer ...
Ford, Suzanne, Muscat, Michelle
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Phenylketonuria (PKU) in adults

, 2014
Monitoring phenylketonuria adult patients is an important subject which has created considerable interest in specialized metabolic clinics. The aim of this paper is to present an overview of the experience with these patients in the Unit of Metabolic ...
Mercedes Martínez-Pardo
core   +1 more source

Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria

Molecular Therapy: Nucleic Acids
Low in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez, Daelyn Y. Richards, Shelley R. Winn, Adrian M. Baris, Anne Vonada, Laura Harper, Cary O. Harding   +6 more
doaj   +1 more source

Neuropathology of phenylketonuria (PKU)

, 2014
Untreated phenylketonuria (PKU) causes cognitive, neuropsychological and motor skills impairment as well as microcephaly and demyelization. Persistent hyperphenylalaninemia produces toxicity on neurons and glial cells, alters cortical development, growth
Norma Specola
core   +1 more source

Phenylketonuria as an Adherence Disease [PDF]

Gérard Reach Health Education and Promotion Laboratory, Sorbonne Paris Nord University, Bobigny, FranceCorrespondence: Gérard Reach, Health Education and Promotion Laboratory, Sorbonne Paris Nord University, 74 Rue Marcel Cachin, Bobigny, 93000, France ...
Reach G
core  

Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation

Metabolites
Background/Objectives: Skeletal impairment has been reported as a common finding in Hyperphenylalaninemia (HPA)/Phenylketonuria (PKU) patients regardless of age and method of diagnosis, both in children and adults.
Albina Tummolo, Giada De Ruvo, Marta Di Nicola, Vito Di Tullio, Livio Melpignano, Donatella De Giovanni, Rosa Carella   +6 more
doaj   +1 more source