Results 21 to 30 of about 1,246 (204)

Breastfeeding in infants diagnosed with phenylketonuria [PDF]

open access: yes, 2022
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]

open access: yes, 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

Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis [PDF]

open access: yes, 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

Protein status in phenylketonuria:A scoping review [PDF]

open access: yes, 2022
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]

open access: yes, 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  

Maternal phenylketonuria [PDF]

open access: yesOrvosi Hetilap, 2013
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]

open access: yes, 2022
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

Análise de desempenho do Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, de 2005 a 2007 Performance analysis of the Rio de Janeiro State Neonatal Screening Program, 2005-2007

open access: yesCadernos 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

Bibliometric Studies and Worldwide Research Trends on Global Health [PDF]

open access: yes, 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

Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia Clinical aspects of phenylketonuria in a reference service for neonatal screening in Bahia

open access: yesRevista 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

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