Results 81 to 90 of about 26,955 (257)

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source

Alterações auditivas e fenilcetonúria: uma revisão sistemática Hearing disorders and phenylketonuria: a systematic review

Revista CEFAC, 2010
TEMA: a fenilcetonúria é uma doença genética que provoca alterações bioquímicas conduzindo a uma deficiência na síntese de proteínas e de neurotransmissores, e prejudicando o processo de mielinização.
Patrícia Cotta Mancini, Ana Lúcia Pimenta Starling, Cláudia Fernanda Tolentino Alves, Thaís Maria da Mata Martins, Maria Cecília Martinelli Iório   +4 more
doaj   +1 more source

Development of an mRNA replacement therapy for phenylketonuria

Molecular Therapy: Nucleic Acids, 2022
C. G. Perez-Garcia, Ramon Díaz-Trelles, J. Vega, Y. Bao, Marciano R. Sablad, Patty Limphong, Simon Chikamatsu, Hailong Yu, Wendy Taylor, P. Karmali, K. Tachikawa, P. Chivukula   +11 more
semanticscholar   +1 more source

Intrinsic property of phenylalanine to trigger protein aggregation and hemolysis has a direct relevance to phenylketonuria

Scientific Reports, 2017
Excess accumulation of phenylalanine is the characteristic of untreated Phenylketonuria (PKU), a well-known genetic abnormality, which triggers several neurological, physical and developmental severities.
B. Anand, K. Dubey, D. S. Shekhawat, K. Kar   +3 more
semanticscholar   +1 more source

Prenatal Diagnosis of Classical Phenylketonuria with Polymerase Chain Reaction, Automatic Sequencing, and Linkage Analysis with Short Tandem Repeats

Taiwanese Journal of Obstetrics & Gynecology, 2005
Objective: To share our experience of prenatal classical phenylketonuria (PKU) diagnosis using the polymerase chain reaction (PCR), automatic sequencing, and linkage analysis with short tandem repeats (STRs).
Wei-Min Hu, Kwang-Jen Hsaio, Cheng-Yi Cheng, Tsung-Sheng Su, Peng-Hui Wang, Man-Li Yang   +5 more
doaj   +1 more source

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial12

American Journal of Clinical Nutrition, 2016
Background: To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet.
D. Ney, Bridget M. Stroup, M. Clayton, S. Murali, G. Rice, F. Rohr, H. Levy   +6 more
semanticscholar   +1 more source

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  

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  

Treatment of Phenylketonuria with a Diet Low in Phenylalanine [PDF]

, 1955
L. I. Woolf, Ruth Griffiths, Alan Moncrieff   +2 more
openalex   +1 more source

Phenylketonuria: A Comprehensive Review of Pathophysiology, Diagnosis, and Management Strategies

Quality in Sport
Introduction: Phenylketonuria (PKU) is a genetically determined congenital metabolic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, which is ingested through food.
Agata Konopka, Zuzanna Szczepaniak, Natalia Wdowiak, Dominika Ziółkowska, Kinga Adamska, Karina Lissak   +5 more
doaj   +1 more source