Results 21 to 30 of about 7,438 (233)
Bone Status in Patients with Phenylketonuria: A Systematic Review [PDF]
, 2020 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal ...
Couce, María Luz +4 more
core +2 more sources
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis [PDF]
, 2019 There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment on growth. To date, evidence from studies is inconsistent, and data on the whole developmental period is limited.
Ahring, Kirsten +9 more
core +2 more sources
Orthopaedic Surgery, Volume 14, Issue 12, Page 3367-3377, December 2022., 2022 Using the three‐dimensional finite‐element models (3D‐FEMs) to evaluate the stress distribution intra‐knee after single‐ and double‐bundle (SB and DB) anterior cruciate ligament reconstruction (ACLR). Found the stress of ligament/graft at femoral side of three 3D‐FEMs was significantly higher than at tibial side, while the highest level was observed in
Zi‐mu Mao +10 more
wiley +1 more source
Quality of life in adults with phenylketonuria:a systematic review / Qualidade de vida em adultos com fenilcetonúria:uma revisão sistemática [PDF]
, 2022 Objective: To evaluate the quality of life of adults with phenylketonuria (PKU) using different methodologies. Methods: review developed according to PRISMA report items and the guidelines of the Cochrane Handbook for Systematic Reviews.
Haack, Adriana, Poubel, Monique
core
Protective Effect of Recombinant Adeno-Associated Virus 2/8-Mediated Gene Therapy from the Maternal Hyperphenylalaninemia in Offsprings of a Mouse Model of Phenylketonuria [PDF]
, 2008 Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the fetus of an ...
Arruda +35 more
core +2 more sources
Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]
, 2017 Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong +34 more
core +1 more source
Revista Brasileira de Saúde Materno Infantil, 2005 OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do estado da Bahia. MÉTODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com
Tatiana Amorim +6 more
doaj +1 more source
Bibliometric Studies and Worldwide Research Trends on Global Health [PDF]
, 2021 Global health, conceived as a discipline, aims to train, research and respond to problems of a transboundary nature, in order to improve health and health equity at the global level.
core +1 more source
Cadernos de Saúde Pública, 2011 As diretrizes enfatizam o momento adequado para a coleta do teste de triagem neonatal entre o 3º e o 7º dias de vida, em 100% dos recém-natos. O tratamento do hipotireoidismo congênito e da fenilcetonúria iniciado até 2 semanas de vida é capaz de evitar ...
Judy Botler +2 more
doaj +1 more source