Results 101 to 110 of about 38,522 (353)

Maternal diabetes mellitus during pregnancy as a risk factor for strabismus and refractive errors in the offspring—A large‐scale national study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To investigate whether maternal diabetes during pregnancy is associated with increased risk of strabismus and refractive errors (RE) in their offspring. Methods This retrospective cohort study utilized electronic medical records from Clalit Health Services (CHS) in Israel, 2001–2023. Births were categorized by maternal diabetes type (
Nir Amitai, Tomer Kerman, Tamar Eshkoli, Ahed Imtirat, Amichai Raz, Itamar Ben Shitrit, Dor Marciano, Eyal Sheiner, Erez Tsumi   +8 more
wiley   +1 more source

Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, in June, 1908. [PDF]

, 1909

openalex   +1 more source

Gut microbial‐derived 3,4‐dihydroxyphenylacetic acid ameliorates reproductive phenotype of polycystic ovary syndrome

iMeta, EarlyView.
By integrating multi‐level and multi‐omics analyses, we identify 3,4‐dihydroxyphenylacetic acid (DHPAA), a gut microbiota‐derived degradation product of dietary flavonoids, as a key bioactive end‐product responsible for the beneficial effects against polycystic ovary syndrome (PCOS).
Pan Li, Li Xie, Huimin Zheng, Yinglin Feng, Feihong Mai, Wenli Tang, Jiajia Wang, Zixin Lan, Shuaijun Lv, Thisun Jayawardana, Sabrina Koentgen, Shuangbin Xu, Zhengwei Wan, Yunjie Chen, Haiyan Xu, Sj Shen, Fan Zhang, Yuanhao Yang, Georgina Hold, Fangjie He, Emad M. El‐Omar, Guangchuang Yu, Xia Chen   +22 more
wiley   +1 more source

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

Molecular Genetics and Metabolism Reports, 2020
Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj  

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

International Journal of Neonatal Screening, 2015
With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently
Esther M. Maier
doaj   +1 more source

Intralitter Variability Influences the Developmental Impact of Valproic Acid Exposure in CD‐1 Mice

Journal of Applied Toxicology, EarlyView.
ABSTRACT Valproic acid (VPA) is an antiepileptic and mood‐stabilizing drug that causes teratogenic effects, including neural tube defects (NTDs), when taken during pregnancy. Although animal models are widely used to study VPA teratogenicity, most rely on litter means, which overlook variability within the litter.
Lauren T. L. Brown, Megan E. Cull, Lihua Xue, Louise M. Winn   +3 more
wiley   +1 more source

Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay

Heliyon, 2022
Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez, Jorge El-Azaz, Gabriela Alejandra Solarte, Alexander Rodríguez, Luis H. Reyes, Carlos Javier Alméciga-Díaz, Carolina Cardona-Ramírez   +6 more
doaj  

Morquio-Ullrich's Disease: An Inborn Error of Metabolism? [PDF]

, 1962
H Dyggve, J Melchior, J. Clausen
openalex   +1 more source

Saliva as a TDM matrix and its application in the model‐informed precision dosing

The Journal of Clinical Pharmacology, EarlyView.
Abstract This study reviews the main points of saliva as a therapeutic drug monitoring (TDM) matrix, its advantages and limitations, the methods of saliva sample collection and testing, the types of drugs in saliva TDM, and the methods of establishing saliva population pharmacokinetic (Pop PK) models, as well as summarizes the experiences and ...
Baohua Xu, Yujie Wen, Jinxia Lu, Maobai Liu, Xin Luo, Wei Huang, Helin Xie, Yu Cheng, Hongqiang Qiu, Xuemei Wu   +9 more
wiley   +1 more source

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

Molecular Genetics and Metabolism Reports, 2020
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj