Results 111 to 120 of about 529,955 (177)

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria. [PDF]

Eur J Neurol
Cannizzo S, Quoidbach V, Sheehan-Gilroy B, Hagedorn T, Bak A, Dickson SL, Treacy EP, Hermida A, MacDonald A, Venegas E, O'Byrne J, Scarpa M, Van Spronsen F, Lange E, Buckinx T, Monavari A, Dahl SV, Trieste L, Turchetti G.   +18 more
europepmc   +1 more source

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation. [PDF]

Orphanet J Rare Dis
Muntau AC, Zhang R, Chakrapani A, Hamazaki T, Lah M, Ruebel DJ, Vijay S, Zori RT, Feillet F, Longo N, Northrup H, Hollander S, O'Connell T, Woolley JJ, Tomazos I.   +14 more
europepmc   +1 more source

Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case Series. [PDF]

Behav Modif
Kirby G, Morawska A, Mitchell AE, McGill J, Coman D, Inwood A.   +5 more
europepmc   +1 more source

Use of a Slow-Release Phenylalanine-Free Microtablet Protein Substitute in Children and Adolescents with Phenylketonuria: An Observational Pilot Study. [PDF]

Nutrients
Tosi M, Daly A, Ashmore C, Yilmaz Nas O, Pinto A, Evans S, MacDonald A.   +6 more
europepmc   +1 more source

Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center. [PDF]

J Obstet Gynaecol Res
İşler-Soylu E, Zubarioglu T, Uygur E, Aras-Çöl T, Babazade-Aghakishili H, Çalışgan K, Kıykım E, Aktuğlu-Zeybek Ç.   +7 more
europepmc   +1 more source

The new frontier of newborn screening: integrating genomics, metabolomics, and data science for inborn errors of metabolism. [PDF]

Orphanet J Rare Dis
Wasim M, Wang Y, Ma G.
europepmc   +1 more source

Newborn screening in Karnataka: A scoping review of the landscape. [PDF]

PLOS Glob Public Health
Kuriakose LM, Mohan D, Choudhury MC.
europepmc   +1 more source

Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework. [PDF]

J Patient Rep Outcomes
Simeon R, Usai M, Tramonti A, Canova R, Frigerio D, Berardi A, Pelosin E, Cosentino C.   +7 more
europepmc   +1 more source

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective. [PDF]

Regen Ther
Batchuluun K, Batjargal K, Tsevgee A, Enkhtur A, Stipan N, Unurbat E, Chimeddorj B, Nyamdavaa K, Boldbaatar D, Ganbaatar E, Umezawa A.   +10 more
europepmc   +1 more source