Results 101 to 110 of about 528,073 (147)

Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.

JAMA Netw Open
Wang S, Zhao J, Gong L, Tang Y, Li L, Yang W, Gu L, Kong Y.   +7 more
europepmc   +1 more source

Progress and Prospects of Newborn Screening in China. [PDF]

Int J Neonatal Screen
Hao X, Huang X, Yang R, Yang X, Huang X, Zhao Z.   +5 more
europepmc   +1 more source

Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms. [PDF]

Ann Afr Med
Sadaria R.
europepmc   +1 more source

Maternal phenylketonuria : a case report

A fenilcetonúria (“Phenylketonuria” - PKU) é um Erro Inato do Metabolismo (EIM) que leva a uma concentração elevada do aminoácido fenilalanina (“phenylalanine” - Phe) no organismo, isso ocorre por um erro genético de herança autossômica recessiva ...
Darós, Victória Helena
core  

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023. [PDF]

Orphanet J Rare Dis
Boehnke A, Müller LM, Heidecke C, Benson A, Neubauer AS, Muntau AC.   +5 more
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

Is Phenylalanine Restricted Dietary Treatment in Phenylketonuria Associated with Disordered Eating: A Systematic Review. [PDF]

Nutrients
Evans S, Ilgaz F, MacDonald A.
europepmc   +1 more source

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source

Impact of depression on quality of life in PKU children. [PDF]

Eur J Pediatr
Abuelela IS, Bebars GM, Kamal AM, Sayed SI, Refaat RS.   +4 more
europepmc   +1 more source