Results 141 to 150 of about 1,246 (204)

Development of an SI traceable value assigned amino acid matrix-matched material to underpin European external quality assessment. [PDF]

Anal Bioanal Chem
Whyte E, Carling R, Cowen S, Sears P, Hopley C.   +4 more
europepmc   +1 more source

A treatable inborn error of metabolism presenting in the sixth decade. [PDF]

BMJ Case Rep
Martin SJ, Davidson A, Murdoch S, Selvarajah J.   +3 more
europepmc   +1 more source

Human medicines European public assessment report (EPAR): Palynziq, pegvaliase, Phenylketonurias, Date of authorisation: 03/05/2019, Status: Authorised

, 2019
null null
core   +1 more source

Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review. [PDF]

Orphanet J Rare Dis
O'Sullivan F, Tomazos I, van Spronsen FJ, Szabo SM, Venkataraman M, Huria L, Smith N, Molony L, Ingalls K, Somera-Molina K, Zhang R, Harding CO.   +11 more
europepmc   +1 more source

Human medicines European public assessment report (EPAR): Kuvan, sapropterin, Phenylketonurias, Date of authorisation: 02/12/2008, Revision: 18, Status: Authorised

, 2019
null null
core   +1 more source

Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance. [PDF]

Int J Mol Sci
Hanusch B, Schlegtendal A, Lücke T, Sinningen K.   +3 more
europepmc   +1 more source

Point-of-Care Testing in PKU: A New ERA of Blood Phenylalanine Monitoring. [PDF]

Nutrients
Pinto A, Gerrard A, Vijay S, Evans S, Daly A, Ashmore C, Gama MI, Rocha JC, Singh R, Jackson R, MacDonald A.   +10 more
europepmc   +1 more source

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics. [PDF]

Orphanet J Rare Dis
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I.   +20 more
europepmc   +1 more source

Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency. [PDF]

BMJ Case Rep
Boley G, Pierri J, Finegold D, Pan L.
europepmc   +1 more source

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects. [PDF]

Nutrients
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +1 more source