Results 21 to 30 of about 1,246 (204)
Breastfeeding in infants diagnosed with phenylketonuria [PDF]
Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the effects of breastfeeding (exclusive or partial) compared to low-Phe formula feeding in the first six months after birth in infants ...
Chadborn, Neil +3 more
core +2 more sources
Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]
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
Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis [PDF]
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
Protein status in phenylketonuria:A scoping review [PDF]
Background & aims: The physical and functional outcomes of lifelong treatment with a phenylalanine restricted diet for the management of Phenylketonuria (PKU) remain unknown.
Firman, Sarah J. +4 more
core +2 more sources
Quality of life in adults with phenylketonuria:a systematic review / Qualidade de vida em adultos com fenilcetonúria:uma revisão sistemática [PDF]
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
Maternal phenylketonuria [PDF]
Elevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, significant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria.
János, Bókay +3 more
openaire +2 more sources
Diet Therapy and Nutritional Management of Phenylketonuria [PDF]
Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness.
core +1 more source
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
Bibliometric Studies and Worldwide Research Trends on Global Health [PDF]
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
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

