Results 181 to 190 of about 7,599 (237)

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran. [PDF]

Mol Genet Genomic Med
Nezhad SRK, Aligoodarzi PN, Rostami G, Shariati G, Galehdari H, Saberi A, Sedaghat A, Sedaghat A, Hamid M.   +8 more
europepmc   +1 more source

Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency. [PDF]

Front Endocrinol (Lausanne)
Hanusch B, Schlegtendal A, Grasemann C, Lücke T, Sinningen K.   +4 more
europepmc   +1 more source

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature. [PDF]

Nutrients
Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +15 more
europepmc   +1 more source

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Hyperphenylalaninemia and birth weight

Annales de Génétique, 2002
Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently the relationship between birth weight and HPA has been investigated.
Florindo Mollica, Barbara Barrano, Concetta Meli, Sebastiano Bianca   +3 more
openaire   +3 more sources

Origins of Hyperphenylalaninemia in Israel [PDF]

European Journal of Human Genetics, 1994
Mutations and polymorphisms at the phenylalanine hydroxylase (PAH) gene were used to study the genetic diversity of the Jewish and Palestinian Arab populations in Israel. PAH mutations are responsible for a large variety of hyperphenylalaninemias (HPAs), ranging from the autosomal recessive disease phenylketonuria to various degrees of nonclinical HPA.
Smadar Avigad, Nathan Brand, Yosef Shiloh, Françoise Rey, Randy C. Eisensmith, Aryeh Shmuelevitz, Savio L. C. Woo, Sandra E. Kleiman, Arnold Munnich, Lina Vanagaite, Gerard Schwartz, Miriam David   +11 more
openaire   +2 more sources

Mild hyperphenylalaninemia: to treat or not to treat [PDF]

Journal of Inherited Metabolic Disease, 2011
AbstractOne of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literature on the outcome of
exaly   +4 more sources

Neonatal Hyperphenylalaninemia: A differential diagnosis

Neuropediatrics, 1970
On the basis of clinical data five forms of phenylalaninemia can be distinguished. The most common of these is true phenylketonuria. Phenylalaninemia Type II represents a group of patients with a defect in phenylalanine transaminase and an inability to form significant amounts of phenylpyruvic acid.
Neil A. Holtzman, John H. Menkes
openaire   +6 more sources

Hyperphenylalaninemia and the genomic revolution

Molecular Genetics and Metabolism, 2015
Political revolutions are marked by the dates of their cataclysms, be theymajor battles or campaigns that shifted momentum: the American Revolution of 1776, the French Revolution of 1789, and the Russian Revolution of 1917. But each of these and every other revolution were preceded bymany smaller but very significant eventswhich culminated in the ...
Harvey L. Levy, Harvey L. Levy, Farrah Rajabi   +2 more
openaire   +3 more sources

Guide for diagnosis and treatment of hyperphenylalaninemia

Pediatrics International, 2021
AbstractImportanceSapropterin hydrochloride, a natural coenzyme (6R‐tetrahydrobiopterin) of phenylalanine hydroxylase, was first approved as a treatment for tetrahydrobiopterin deficiency in 1992 in Japan, and was then approved as a treatment for a tetrahydrobiopterin‐responsive hyperphenylalaninemia in 2007 and 2008, in the USA and Japan, respectively.
Haruo Shintaku, Toshihiro Ohura, Masaki Takayanagi, Shigeo Kure, Misao Owada, Yoichi Matsubara, Makoto Yoshino, Yoshiyuki Okano, Tetsuya Ito, Torayuki Okuyama, Kimitoshi Nakamura, Masafumi Matuo, Fumio Endo, Hiroyuki Ida   +13 more
openaire   +3 more sources