Results 81 to 90 of about 7,599 (237)

CIRCADIAN PLASMA GH CONCENTRATIONS IN CHILDREN WITH PHENYLKETONURIA (PKU), HYPERPHENYLALANINEMIA (H), CYSTINOSIS (C) AND HOMOCYSTINURIA (HU) [PDF]

, 1977
H Schedewie, Ch. Lipinski, H. Schmidt, Joycelyn Elders   +3 more
openalex   +1 more source

The Effects of Hyperphenylalaninemia on Fetal Development: a New Animal Model of Maternal Phenylketonuria [PDF]

, 1982
Clifford A. Brass, Charles E. Isaacs, Ruth McChesney, Olga Greengard   +3 more
openalex   +1 more source

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

The Turkish journal of pediatrics, 1996
Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes: guanosine triphosphate cyclohydrolase 1,6-pyruvoyltetrahydropterin synthase, dihydropteridin reductase and pterin-4a-carbinolamine dehydratase.
Blau N, Thony B, Spada M, Ponzone A
openaire   +3 more sources

GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child – a case report

BMC Pediatrics, 2019
Background Tetrahydrobiopterin (BH4) deficiencies are disorders affecting phenylalanine homeostasis, and catecholamine and serotonin biosynthesis. GTP-Cyclohydrolase I deficiency (OMIM 600225) is an extremely rare variant of inborn error of BH4 synthesis
Kavinda Chandimal Dayasiri, Nayani Suraweera, Deepal Nawarathne, U. E. Senanayake, B. K. T. P. Dayanath, Eresha Jasinge, Kumudu Weerasekara   +6 more
doaj   +1 more source

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia [PDF]

, 2017
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely ...
Abada, Myriem, Bouteiller, Delphine, Brice, Alexis, Camuzat, Agnès, Castelnau, Pierre, Cazeneuve, Cécile, Chabrol, Brigitte, Clot, Fabienne, Damier, Philippe, Doummar, Diane, Durr, Alexandra, Fedirko, Estelle, Gil, Roger, Grabli, David, Hutchinson, Michael, Landrieu, Pierre, LeGuern, Eric, Nguyen, Karine, Picard, Fabienne, Ponsot, Gérard, Roze, Emmanuel, Sân, Chankannira, Thobois, Stéphane, Toutain, Annick, Vidailhet, Marie, Ward, Alana J.   +25 more
core  

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

The Turkish Journal of Pediatrics
Objective. Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to ...
Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +8 more
doaj   +1 more source

Clinical, genetic, and experimental research of hyperphenylalaninemia [PDF]

, 2023
Anqi Chen, Yukun Pan, Jinzhong Chen
openalex   +1 more source

Supportive care in a patient with Alstrom syndrome with hyperphenylalaninemia and sleep problems [PDF]

, 2023
Shabnam Jalilolghadr, Fatemeh Saffari, Mehdi Alizadeh, Alireza Taremiha, Marjan Ghodsi, Mersedeh Ghodsi   +5 more
openalex   +1 more source

Retrospective study of patients with hyperphenylalaninemia: Experience from a tertiary care center in Pakistan [PDF]

, 2019
Objective: To assess the clinical and biochemical features as well as outcome of perphenylalaninemia patients.Methods: The descriptive retrospective study was conducted at the Aga Khan University Hospital, Karachi, and comprised data from January 2013 to
Afroze, Bushra, Ahmed, Sibtain, Ali, Zeba Zulfiqar, Jafri, Lena, Khan, Aysha Habib, Majid, Hafsa   +5 more
core   +1 more source

State-of-the-art 2023 on gene therapy for phenylketonuria [PDF]

Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited (metabolic) liver defect and is, based on murine models that replicate all human pathology, an exemplar model for experimental studies on liver gene therapy ...
Harding, Cary O, Martinez, Michael, Schwank, Gerald, Thöny, Beat   +3 more
core   +1 more source