Results 131 to 140 of about 57,504 (328)

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

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  

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  

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Interhospital variation in the management of Brief Resolved Unexplained Events (BRUE) in infants: A Canadian multicenter cohort study

Journal of Hospital Medicine, EarlyView.
Abstract Background Guidelines on Brief Resolved Unexplained Event (BRUE) only provide recommendations for infants categorized at lower risk. However, most infants fall into the higher‐risk category, leaving management decisions to individual clinicians and contributing to variation in care.
Nassr Nama, Kara Picco, Polina Kyrychenko, Jeffrey N. Bone, Julie Quet, Jessica L. Foulds, Josée Anne Gagnon, Chris Novak, Brigitte Parisien, Matthew Donlan, Ran D. Goldman, Anupam Sehgal, Ronik Kanani, Joanna Holland, Sanjay Mahant, Eric Coon, Joel S. Tieder, Peter J. Gill, The Canadian BRUE Collaboration (C‐BRUE‐C) and the Canadian Paediatric Inpatient Research Network (PIRN)   +18 more
wiley   +1 more source

A prediction model for genetic cholestatic disease in infancy using the machine learning approach

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Diagnostic algorithm for cholestatic infants. Abstract Objectives Cholestasis in infancy poses a complex clinical conundrum for pediatric hepatologists, warranting timely diagnosis, especially for genetic diseases. This study aims to create machine learning (ML)‐based prediction models, referred to as Jaundice Diagnosis Easy for Baby (JADE‐B), to ...
Chi‐San Tai, Sung‐Chu Ko, Chien‐Chang Lee, Hui‐Ru Yang, Chia‐Ray Lin, Byung‐Ho Choe, Suporn Treepongkaruna, Voranush Chongsrisawat, Chau‐Chung Wu, Huey‐Ling Chen   +9 more
wiley   +1 more source

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Network Boston, 2020
Aashish N. Adhikari, R. Gallagher, Yaqiong Wang, R. Currier, George S. Amatuni, Laia Bassaganyas, Flavia Chen, Kunal Kundu, M. Kvale, S. Mooney, R. Nussbaum, S. Randi, J. Sanford, Joseph T C Shieh, Rajgopal Srinivasan, Uma Sunderam, Hao Tang, Dedeepya Vaka, Yang Zou, B. Koenig, P. Kwok, N. Risch, J. Puck, S. Brenner   +23 more
semanticscholar   +1 more source

Porto‐sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: A case report

JPGN Reports, EarlyView.
Abstract Prolidase deficiency (PD) is a rare autosomal recessive disorder affecting collagen turnover, leading to diverse clinical manifestations including dermatologic lesions, hepatosplenomegaly, and vascular anomalies. Liver involvement in PD is poorly understood, with few reported cases.
Melissa Castro, Christian Martinez, Carole Brathwaite, Reuven Bromberg, Ana M. Rodriguez, Erick Hernandez   +5 more
wiley   +1 more source