Results 91 to 100 of about 17,994 (195)

Challenges to Breastfeeding Infants With Phenylketonuria [PDF]

, 2015
Breastfeeding duration for infants with phenylketonuria (PKU) is less than other full-term infants. However, no study has examined the challenges encountered by mothers\u27 breastfeeding infants with PKU.
Banta-Wright, Sandra
core   +1 more source

An Adaptation of the Profile of Mood States for Use in Adults With Phenylketonuria

Journal of Inborn Errors of Metabolism and Screening, 2016
Adults with phenylketonuria (PKU) experience disturbances in mood. This study used qualitative and quantitative techniques to adapt the 65-item Profile of Mood States (POMS) for the assessment of key mood domains in adults with PKU.
Elizabeth D. Bacci PhD, Kathleen W. Wyrwich PhD, Katharine S. Gries PhD, Yinpu Chen PhD, Rishabh Jain MS, Laurel Konkol MS, Markus J. Merilainen MD, Haoling H. Weng MD   +7 more
doaj   +1 more source

Breast feeding in infants diagnosed with phenylketonuria (PKU): a scoping review. [PDF]

BMJ Paediatr Open, 2023
Kalvala J, Chong L, Chadborn N, Ojha S.
europepmc   +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  

Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran

, 2015
Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran Background: Phenylketonuria is an autosomal recessive disease.
Negar Morovatdar, Tahereh Mina, Shapour Badiee Aval, Seyed Mohammad Reza Hosseini Yazdi, Farzaneh Norouzi   +4 more
core  

Chilean model for long-term follow-up of phenylketonuria (PKU)

, 2014
Chilean newborn screening program began in 1984 through of a covenant between the National Ministry of Health and the Chilean University through its Institute of Nutrition and Food Technology (INTA) with the aim of implementing a pilot study for neonatal
Eloina Fernández, Verónica Cornejo, Gabriela Castro   +2 more
core   +1 more source

Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene

Stem Cell Research
Pathogenic variants in the phenylalanine hydroxylase (PAH) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development.
Yu Wang, Lisha An, Huimin Gao, Chuan Zhang, Lin Wang, Yanping Zhang, Lu Zhang, Yousheng Yan, Xiaohua Jin, Xu Ma   +9 more
doaj   +1 more source

Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document. [PDF]

Nutrients, 2022
Robertson L, Adam S, Ellerton C, Ford S, Hill M, Randles G, Woodall A, Young C, MacDonald A.   +8 more
europepmc   +1 more source

Advancements in food science for Phenylketonuria (PKU) management: a comprehensive review

: This review systematically explores the pivotal role of food science and technology as a support for Phenylketonuria (PKU) dietary management. It delves into the genetic and metabolic underpinnings of PKU, highlighting the crucial need for stringent ...
Puleo, Sharon, Fidaleo, Marcello, Russo, Giovanni Luca, Scala, Iris, Cavella, Silvana, Di Monaco, Rossella   +5 more
core   +1 more source

Investigation of exon 4 mutations of phenylalanine hydroxylase gene in phenylketonuria patients in Guilan Province using PCR-sequencing

Fiyz̤, 2019
Background: Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. Distribution pattern of mutations in the PAH gene are specific to each
Neda Pourvatan , Zeinab Khazaei -Koohpar   +1 more
doaj