Results 121 to 130 of about 25,962 (237)

Healthcare Utilisation in Ageing Adults With Intellectual Disability: Longitudinal Evidence From Five Waves of IDS‐TILDA

Journal of Applied Research in Intellectual Disabilities, Volume 39, Issue 3, May 2026.
ABSTRACT Background Adults with intellectual disability are living longer and ageing with more illness. This impacts healthcare utilisation. Yet little is known about how healthcare utilisation changes over time as this population ages. Methods Five waves of longitudinal data of people ≥ 40 years with intellectual disability from 2009 to 2023 were ...
Martin McMahon, Aviejay Paul, Catriona Ryan, Louise Lynch, Philip McCallion, Mary McCarron, Eilish Burke   +6 more
wiley   +1 more source

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency [PDF]

, 2018
Summary: The oral loading test with tetrahydrobiopterin (BH4) is used to discriminate between variants of hyperphenylalaninaemia and to detect BH4-responsive patients.
Blau, N., Demirkol, M., Fiege, B., Fiori, L., Giovannini, M., Gärtner, K., Ozen, I., Thöny, B., Zurflüh, M.   +8 more
core  

The role of the pediatrican in the effort to prevent congenital malformations [PDF]

, 2011
N
Brent, Robert L, Dr.
core   +1 more source

Amino acids, glucose metabolism and clinical relevance for phenylketonuria management [PDF]

, 2015
It is general knowledge that glycaemia is affected by digested nutrients.Amino acids intake appears to be an important regulator in this regard. Many questions need to be answered, such as the real mediators of this responseand the mechanisms underlying ...
Borges, Nuno, Pena, MJ, Rocha, JC
core  

Blocked dihydropteridines as nitric oxide synthase activators [PDF]

, 2010
It has been shown that 6-acetyl-7,7-dimethyl-5,6,7,8-tetrahydropteridin-4(3H)-one can act as a competent cofactor for the production of nitric oxide by neuronal nitric oxide synthase (nNOS).
Daff, Simon, Gazur, Ben, Gibson, C.L., McInnes, Craig R., Morthala, Raghavendar R., Suckling, C.J.   +5 more
core  

Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes

Advanced Science
Phenylketonuria (PKU) is the most common inherited metabolic disease in humans. Clinical screening of newborn heel blood samples for PKU is costly and time‐consuming because it requires multiple procedures, like isotope labeling and derivatization, and ...
Haiyang Su, Huiwen Zhang, Jiao Wu, Lin Huang, Mengji Zhang, Wei Xu, Jing Cao, Wanshan Liu, Ning Liu, Hongwei Jiang, Xuefan Gu, Kun Qian   +11 more
doaj   +1 more source

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This

Children
This study aims to evaluate the process of neonatal phenylketonuria (PKU) screening from birth to admission to the pediatric metabolism polyclinic, determining delays in the screening program and the factors influencing them.
Banu Kadıoğlu Yılmaz, Zafer Bağcı
doaj   +1 more source

Programa Nacional de Diagnóstico Precoce: Relatório 2012 [PDF]

, 2013
Comissão Executiva do Diagnóstico Precoce: Laura Vilarinho, Paulo Pinho e Costa, Luísa Diogo.Relatório do Programa Nacional de Diagnóstico Precoce (PNDP) relativo ao ano de 2012.
Diogo, Luísa, Pinho e Costa, Paulo, Vilarinho, Laura   +2 more
core  

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
core  

Maternal Phenylketonuria [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1998
H, Wilkinson, I B, Holbrook
openaire   +2 more sources