Results 131 to 140 of about 178,348 (314)

Conventional Phenylketonuria Treatment

Journal of Inborn Errors of Metabolism and Screening, 2016
Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system.
Guillén-López Sara MS, RD, López-Mejía Lizbeth Alejandra RD, Ibarra-González Isabel MS, Vela-Amieva Marcela MD   +3 more
doaj   +1 more source

Challenges in the management of Phenylketonuria in Malta [PDF]

, 2016
Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core  

Retinal Pigment Epithelium‐Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I

MedComm, Volume 6, Issue 11, November 2025.
RPE‐targeted gene therapy restored melanin expression and relieved ocular dysfunction. By optimizing the injection method, a wider range of melanin expression and better therapeutic effects have been achieved. ABSTRACT Oculocutaneous albinism (OCA) represents a genetically heterogeneous autosomal recessive condition marked by reduced melanin production
Li Song, Chengda Ren, Min Luo, Jing Su, Xiu Jin, Jiamei Fu, Qiuxia Xu, Xiaoyi Wu, Fanfei Liu, Qin Ye, Ming Hu, Man Liu, Qiqi Li, Yifang An, Manjun Li, Qingnan Wang, Kaiqin She, Fang Lu, Yang Yang   +18 more
wiley   +1 more source

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province. [PDF]

Front Genet, 2023
Zeng B, Lu Q, Chen S, Guan H, Xu X, Zou Y, Wang F, Huang S, Liu Y, Yang B.   +9 more
europepmc   +1 more source

Phenylalanine Hydroxylase of Macaca irus [PDF]

, 1975
Richard G.H. Cotton, Phillip J. GRATTAN
openalex   +1 more source

Atypical Neuroblastoma With Absent Urinary Catecholamine Excretion and 123ImIBG Avidity Are of Favorable Outcome: A Retrospective French Single‐Center Study

Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.
Abstract Background In neuroblastoma (NB), urinary catecholamine excretion and 123ImIBG avidity—depending on tumor enzymatic activity and norepinephrine transporter expression, respectively—are diagnostic standards. The prognostic impact of atypical NB, without urinary catecholamine excretion and/or 123ImIBG avidity, remains to be determined. We sought
Anna Borovkov, Juliette Assy, Isabelle Aerts, Franck Bourdeaut, Camille Cordero, Valérie Laurence, Amaury Leruste, Sarah Winter, Jean Michon, Daniel Orbach, Hélène Pacquement, Pascale Philippe‐Chomette, Gaelle Pierron, Julien Masliah‐Planchon, Sylvie Helfre, Isabelle Janoueix‐Lerosey, Anne‐Sophie Defachelles, Claudia Pasqualini, Nina Jehanno, Joanna Cyrta, Arnaud Gauthier, Véronique Mosseri, François Doz, Sabine Sarnacki, Liesbeth Cardoen, Hervé J. Brisse, Marie Luporsi, Gudrun Schleiermacher   +27 more
wiley   +1 more source

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening. [PDF]

Children (Basel), 2023
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C.   +7 more
europepmc   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants. [PDF]

Sci Rep, 2022
Sarodaya N, Tyagi A, Kim HJ, Kang JS, Singh V, Hong SH, Kim WJ, Kim KS, Ramakrishna S.   +8 more
europepmc   +1 more source