Results 81 to 90 of about 1,727,355 (121)

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

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

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

Integrating telemedicine into nutritional management of infants with inherited metabolic disorders: a pilot study. [PDF]

Front Pediatr
Tagi VM, Montanari C, Tosi M, Stucchi E, Cartalemi AME, Gandini L, Eletti F, Perico V, Borsani B, Fiori L, Calcaterra V, Zuccotti G.   +11 more
europepmc   +1 more source

Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults - a systematic review. [PDF]

Front Pediatr
Dianasari, 'Aissy CR, Javier RM, Nativity G, Ahyandi SS, Amiralevi SH, Putra Arlond FG, Sari KP, Riandata MR, Putra CJ, Prathama CB, Thiono FR, Hutasoit JI, Setiyadi D, Faiyq AA, Arifin AP, Kris Firmantya Tei Seran BK, Panahatan D, Setiawan MA, Rifani F, Ferdian A, Regina K, Dania, Farabi F, Caecarma GY, Wiryaputra JA, Yasyfin AY, Irfani Fanada MI, Safitri LS, Albab CF, Adnani B, Hidayat MR, Rahmaputri MD, Sutarsa T, Octavia L, Andita MF, Phastika HP, Tanaka J, Sekarsari D, Dewi Laras Sati DA, Ramabuana MC, Simbolon R, Fazrian Danu MR, Rachman A, Agfata FR, Palyama S, Yogatama Putra AP, Mamanta Sitepu AE, Fibullah RM, Maulidiah A, Syifa A, Indrasto SB, Alim A, Sukmawan R, Rachmanto, Asylia A, Nufus H, Chandrawati PF, Prasetyo AD, Sutanto L, Sander MA.   +60 more
europepmc   +1 more source

Supporting breastfeeding when clinical nutrition interventions are required in the paediatric healthcare setting: a systematic review. [PDF]

Int Breastfeed J
Errico JL, Choi TST, Pacilli M, Davidson ZE.   +3 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis. [PDF]

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

Psychosocial adaptation of children and adolescents with phenylketonuria in Korea. [PDF]

Mol Genet Metab Rep
Lee J, Suh ES.
europepmc   +1 more source

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders. [PDF]

Metab Brain Dis
Kuzucu FN, Kilic M, Sezer A, Has-Ozhan S, Yildiz H, Celen-Yoldas T, Onat FN, Uyanik M.   +7 more
europepmc   +1 more source