Results 31 to 40 of about 7,599 (237)

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source

Antioxidant status in hyperphenylalaninemia

Clinica Chimica Acta, 1998
Abnormal oxidative stress was observed in some inborn errors of metabolism owing to the accumulation of toxic metabolites leading to excessive free radical production and to the influence of restricted diets on the antioxidant status. Erythrocyte antioxidant enzymes activities and tocopherol concentrations were measured in a group of phenylketonuric (n
N. Lambruschini, Ramon Deulofeu, Cristina Sierra, Dolores Moyano, Nuria Brandi, Aurea Mira, M. Antònia Vilaseca, Jaume Campistol, Fco.José Cambra   +8 more
openaire   +4 more sources

The effect of phenylalanine restricted diet on anthropometric parameters in classical phenylketonuria patients

Journal of Behçet Uz Children's Hospital, 2019
INTRODUCTION: Classical phenylketonuria (PKU) is an inherited disorder of amino acid metabolism disorder. The basis of treatment is a life-long phenylalanine restricted diet.
Engin Köse, Hatice Öztürk, Baransel Özdemir, Recep Eren Özçelik, Lütfiye Çiftçi, Kübra Çetin, Fatih Öztürk, Nur Arslan   +7 more
doaj   +1 more source

HYPERPHENYLALANINEMIA: CASE REPORT [PDF]

Ambiance in Life International Scientific Journal in Medicine of Southern Caucasus, 2021
Background: Hyperphenylalaninemia (HPA) is a group of autosomal recessive diseases caused by impaired metabolism of the essential amino acid phenylalanine (Phe), which enters the human body with protein food [1]. HFA combines several genetically heterogeneous forms of phenylalanine metabolism disorders similar in clinical features: classical ...
Lyazzat Syrlybayeva Lyazzat Syrlybayeva, Lyazzat Baikadamova Lyazzat Baikadamova, Victoria Kononetc Victoria Kononetc, Eleonora Nurbaulina Eleonora Nurbaulina, Gulmira Zharmakhanova Gulmira Zharmakhanova   +4 more
openaire   +1 more source

Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019

International Journal of Medical Biochemistry, 2022
INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli, Melike Ersoy, Abdullah Emre Güner, Ibrahim Taş   +3 more
doaj   +1 more source

Genetics and genomic medicine in Argentina [PDF]

, 2018
A historical summary of genetics and genomic medicine in Argentina. We go through the achievements and difficulties in the implementation of genetic and genomic services both in academia and health care.Fil: Vishnopolska, Sebastián Alexis.
Avena, Barbero, Borrajo, Borrajo, Botto, Botto, Brenner, Chiesa, Christianson, Di Lonardo, Egeland, González-Morón, Groisman, Homburger, Kling, Kling, Langou, Liascovich, Ma, Nemirovsky, Orrego, Penchaszadeh, Ruitberg, Seldin, Stevenson, Therrell, Therrell, Vázquez   +27 more
core   +1 more source

Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]

, 2018
We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe, Colamartino, Marco, Di Menna, Luisa, Fiori, Elena, Iacovelli, Luisa, Leuzzi, Vincenzo, Nardecchia, Francesca, Nicoletti, Ferdinando, Nistico, Robert, Orlando, Rosamaria, Pascucci, Tiziana, Piccinin, Sonia, Puglisi-Allegra, Stefano   +12 more
core   +2 more sources

Highest Plasma Phenylalanine Levels in (Very) Premature Infants on Intravenous Feeding; A Need for Concern [PDF]

, 2015
Objective. To analyse the association in newborns between blood levels of phenylalanine and feeding method and gestational age. Study Design. This observational, cross-sectional study included a sample of 11,829 infants between 2008 and 2013 in a Spanish
Bosch-Giménez, Vicente, Cortés Castell, Ernesto, Gil Guillén, Vicente, Juste-Ruiz, Mercedes, Manero, Herminia, Palazón Bru, Antonio, Rizo-Baeza, Mercedes, Sánchez-González, Pablo   +7 more
core   +4 more sources

Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study

PLoS ONE, 2022
Patients with phenylketonuria (PKU), an inborn error of phenylalanine metabolism, require consistent treatment to avoid the brain toxicity caused by hyperphenylalaninemia. The treatment consists of life-long use of a low-phenylalanine diet, which aims at
Miroslaw Bik-Multanowski, Bozena Didycz, Kinga Bik-Multanowska   +2 more
doaj   +2 more sources

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

JIMD Reports, 2021
Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.
Ayse Ergul Bozaci, Esra Er, Havva Yazici, Ebru Canda, Sema Kalkan Uçar, Merve Güvenc Saka, Cenk Eraslan, Hüseyin Onay, Sara Habif, Beat Thöny, Mahmut Coker   +10 more
doaj   +1 more source