Results 91 to 100 of about 18,914 (186)

Evaluation of Personal-Social Developmental Skills Levels in Children with Early Treated Phenylketonuria

Journal of Rehabilitation, 2013
Objective: This Study aimed to investigate the level of personal-social developmental skills in 1-4 years old children with early treated phenylketonuria.
Zahra Ghadbeigi, Firouzeh Sajedi, Akbar Biglariyan, Gita Movallali, Sepideh Nazi   +4 more
doaj  

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Diet for Phenylketonuria in Childhood and Its Financial Complexity

, 2022
The thesis deals with the diet of children with phenylketonuria. Phenylketonuria, its diagnostics and incidence are described in the theoretical part, it also further discusses the treatment of the disease, dietary measures as part of low-protein diet ...
KONIAKOVSKÁ, Alena
core  

Investigation of Demographic Indicators of Phenylketonuria Patients and Determining the Reasons for Their Referral to Rehabilitation Centers

پزشکی بالینی ابن سینا, 2020
Background and Objective: Phenylketonuria is one of the most common metabolic disorders which causes brain abnormalities in children if they do not receive treatment or their treatment is delayed or ineffective. In this regard, the present study aimed to
Zahra Mortazavi, Seyed Sadegh Salehi Sadati, Malihe Safari, Nasrin Gohari, Saideh Sadat Mortazavi   +4 more
doaj  

Discovery of phenylketonuria and its significance to mental retardation [PDF]

, 1969
This paper studies phenylketonuria and its relation to mental retardation in ...
Schubert, Charles R.
core  

Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria. [PDF]

Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated adults with phenylketonuria exhibit alterations in cortical grey matter compared ...
Everts, Regula, Hochuli, Michel, Muri, Raphaela, McKinley, Richard, Wiest, Roland, Trepp, Roman, Maissen-Abgottspon, Stephanie, Kreis, Roland, Rummel, Christian, Rebsamen, Michael, Pospieszny, Katarzyna, Radojewski, Piotr   +11 more
core   +1 more source

Molecular Genetics of Phenylketonuria in East Asia [PDF]

, 1994
Phenylketonuria is a highly heterogeneous disorder for which more than 150 different mutations have been identified world wide. These mutations exhibit an association with restriction fragment-length polymorphism haplotypes at the phenylalanine ...
Okano, Yoshiyuki
core  

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
core  

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

Phenylketonuria With Acute Myeloblastic Leukemia in a 9-year-old Boy: Reporting a Rare Case

, 2011
Phenylketonuria is a genetic metabolic disorder resulting in phenylalanine accumulation in blood. Phenylacetate, which is an abnormal phenylalanine metabolities, was hypothesized to have anticancer activity. Two-years-old boy was diagnosed with classical
KARAKÜKCÜ, Musa, Musa Karakukcu, PATIROĞLU, Türkan, Mehmet Akif Ozdemir, Sayilmaz, Ozlem, Turkan Patiroglu, Ozdemir, Mehmet Akif, Ozlem Sayilmaz, ÜNAL, Ekrem, Ekrem Unal, KARDAŞ, Fatih, Fatih Kardas   +11 more
core   +1 more source