Results 101 to 110 of about 25,962 (237)

Effect of Experimental Phenylketonuria on the Bone of Pregnant Mothers and Their Young During Perinatal Life and After Delivered Newborn of Albino Rats [PDF]

, 2015
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala), Elsayyad, H. I. (Hassan), Hefny, H. A. (Hany), Mohallal, M. E. (Mahmoud)   +3 more
core  

Phenylketonuria: Genes in Phenylketonuria, Diagnosis, and Treatments [PDF]

SSRN Electronic Journal, 2019
Introduction: Phenylketonuria (PKU) is a rare autosomal-recessive disorder inherited in accordance with the law of segregation. Detection tools for people with PKU can include Sanger Sequencing (SS) and Next Generation Sequencing (NGS). Diet therapy, Large Neutral Amino Acids (LNAA), and Specific Nutrient Combination (SNC) can help alleviate people ...
openaire   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II, John Barber, Chaya N. Murali, Members of the Urea Cycle Disorders Consortium (UCDC), Nicholas Ah Mew, Matthias R. Baumgartner, Gerald Berry, Susan A Berry, Margo Breilyn, Gregory Enns, Can Ficicioglu, Renata C. Gallagher, Andrea Gropman, Cary O. Harding, Georg Hoffman, Laura Konczal, Christina Lam, Cynthia Le Mons, Shawn E. McCandless, Sandesh CS Nagamani, Roland Posset, Andreas Schulze, Jennifer Seminara, Tamar Stricker, Derek Wong, Greta Wilkening   +25 more
wiley   +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

Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real‐World Matched Cohort Study

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Phenylketonuria (PKU) is caused by defective catabolism of phenylalanine (Phe), resulting in Phe accumulation and subsequent neurocognitive impairment. This retrospective study used a large United States claims database linked to laboratory records (6/2018–05/2023) to compare comorbidities, healthcare resource utilization, and healthcare costs
Nicola Longo, Barbara K. Burton, Shailja Vaghela, Fan Mu, Aolin Wang, Jess Smith, Emily Reichert, Ryan B. Simpson, Vanja Sikirica, Sue Perera   +9 more
wiley   +1 more source

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +1 more source

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

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core  

International Survey on Phenylketonuria Newborn Screening

International Journal of Neonatal Screening
Newborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment.
Domen Trampuž, Peter C. J. I. Schielen, Rolf H. Zetterström, Maurizio Scarpa, François Feillet, Viktor Kožich, Trine Tangeraas, Ana Drole Torkar, Matej Mlinarič, Daša Perko, Žiga Iztok Remec, Barbka Repič Lampret, Tadej Battelino, ISNS Study Group on PKU, Francjan J. van Spronsen, James R. Bonham, Urh Grošelj   +16 more
doaj   +1 more source