Results 101 to 110 of about 30,878 (268)

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

A CHEMICAL INVESTIGATION OF THE DEFECTS OF MYELINATION IN PHENYLKETONURIA [PDF]

, 1962
L. Crome, V. Tymms, L. I. Woolf
openalex   +1 more source

Comprehensive Characterization of Bihormonal Cells and Endocrine Cell Lineages in Mammalian Pancreatic Islets

Advanced Science, Volume 12, Issue 30, August 14, 2025.
This study integrates dual‐reporter genetics, imaging flow cytometry, and single‐cell sequencing to characterize rare bihormonal cells in mouse and human pancreatic islets. Gcg⁺Ins⁺ cells resemble α‐cells rather than transitional states. Cross‐species gene network analysis refines islet cell taxonomy and reveals human‐specific δ‐cell subtypes ...
Xin‐Xin Yu, Peng Peng, Yi‐Ning Wang, Mao‐Yang He, Shuang He, Chen‐Tao Jin, Liu Yang, Xi Wang, Jia‐Xi Zheng, Jie Gao, Cheng‐Ran Xu   +10 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

Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory Analysis [PDF]

, 1969
Silvana K. Rampini, Phillipp Anders, H.‐Ch. Curtius, T.M. Marthaler   +3 more
openalex   +1 more source

In Vivo Dynamic Coronary Arteries Blood Flow Imaging Based on Multi‐Cycle Phase Clustering Ultrafast Ultrasound

Advanced Science, Volume 12, Issue 31, August 21, 2025.
This study addresses a critical gap in ultrafast ultrasound cardiovascular flow imaging and introduces a transformative approach, Clustering Singular Value Decomposition (cSVD), which enables dynamic cardiovascular flow imaging throughout full cardiac cycle without motion correction and hyper‐fast imaging strategies.
Hao Yu, Jiabin Zhang, Feng Feng, Jinyu Yang, Yu Xia, Yunlong Zhao, Jue Zhang   +6 more
wiley   +1 more source

Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji

Slovenian Journal of Public Health, 2015
Uvod. Presejanje novorojencev v Sloveniji se je začelo leta 1979 s presejanjem za fenilketonurijo (PKU). Leta 1981 je bil v program presejanja dodan še kongenitalni hipotireoidizem (CH).
Šmon Andraž, Grošelj Urh, Žerjav Tanšek Mojca, Biček Ajda, Oblak Adrijana, Zupančič Mirjana, Kržišnik Ciril, Repič Lampret Barbka, Murko Simona, Hojker Sergej, Battelino Tadej   +10 more
doaj   +1 more source

Department of Health Research, Sintef Technology and Society, Oslo, Norway

Scandinavian Journal of Disability Research, 2014
Today most adults with phenylketonuria (PKU) have followed a protein restricted diet from early infancy. This makes their disorder an invisible impairment which becomes visible only when food is served.
Plata Sofie Diesen, Ingrid Wiig, Lisbet Grut   +2 more
doaj   +1 more source

Safety, tolerability, pharmacokinetics and pharmacodynamics of HSK31858, a novel oral dipeptidyl peptidase‐1 inhibitor, in healthy volunteers: An integrated phase 1, randomized, double‐blind, placebo‐controlled, single‐ and multiple‐ascending dose study

British Journal of Clinical Pharmacology, Volume 91, Issue 8, Page 2262-2272, August 2025.
Abstract Aim Dipeptidyl peptidase‐1 (DPP‐1) inhibitors have been studied for the treatment of neutrophil‐mediated inflammatory diseases including bronchiectasis, bronchial asthma and cystic fibrosis. This study evaluated the pharmacokinetics, pharmacodynamics, safety and tolerability of DPP‐1 inhibitor HSK31858 in healthy Chinese volunteers.
Yuhao Wang, Chao Yu, Mengyue Hu, Lu Wang, Meixia Chen, Hanmo Liu, Nan Wu, Jie Hou   +7 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