Results 131 to 140 of about 17,388 (185)

Identification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria. [PDF]

Metabolomics
Vézirian S, Cunin V, Dias C, Le Gouellec A, Faure P, Toussaint B, Corne C, Plazy C.   +7 more
europepmc   +1 more source

A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria

Patient Preference and Adherence
Yu-Juan Zheng,1 Yong-Chao Hou,2 Hua Zhao,3 Xiao-Yun Wang,4 Yu-Dan Liu,3 Li Li,5 Liang Yu,6 Ming-Mei Guo1 1Department of Cardiology, Shanxi Provincial People’s Hospital, Taiyuan, 030012, People’s Republic of China; 2Department of Emergency, Shanxi ...
Zheng YJ, Hou YC, Zhao H, Wang XY, Liu YD, Li L, Yu L, Guo MM   +7 more
doaj  

A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children. [PDF]

Sci Rep
Yahia S, El-Gilany AH, Magdy RM, Bebars GM, Fadle YS, Dawoud H, ELfeil NS, Moussa MM, Assy R, Sadek AA, Abdelmoneim Z.   +10 more
europepmc   +1 more source

The status of newborn screening in Africa: Situation analysis, future plans and call to action. [PDF]

Afr J Lab Med
Satekge T, Okesina A, Anetor J, Erasmus R.   +3 more
europepmc   +1 more source

Atypical Phenylketonuria: An Approach to Diagnosis and Management [PDF]

, 1970
John S. Yu, S. J. Stuckey, Mary O'Halloran   +2 more
openalex   +1 more source

Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource-Constrained Middle Eastern Country. [PDF]

Int J Pediatr
Yazbeck N, Zalzal RN, El Oueichek F, Samaha J, Barhoumi A, Karam PE.   +5 more
europepmc   +1 more source

739 TRANSIENT BIOPTERIN SYNTHETASE DEFICIENCY IN A NEW-BORN WITH PHENYLKETONURIA [PDF]

, 1981
Reuben Matalon, K. Michals, Chinq-Lun Lee, J. C. Nixon   +3 more
openalex   +1 more source

Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study. [PDF]

Nutrients
López-Mejía L, Guillén-López S, Vela-Amieva M, Fernández-Lainez C, Castro-Monroy L.   +4 more
europepmc   +1 more source

A different approach to treatment of phenylketonuria: Phenylalanine degradation with recombinant phenylalanine ammonia lyase

, 1999
Christineh N. Sarkissian, Zhongqi Shao, Françoise Blain, Rosalie Peevers, Hongsheng Su, Robert Heft, Thomas Ming Swi Chang, Charles R. Scriver   +7 more
openalex   +2 more sources

The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria. [PDF]

Int J Stem Cells
Yu I, Park H, Lee J, Jeong J.
europepmc   +1 more source