Results 111 to 120 of about 38,522 (353)

Homocystinuria: A New Inborn Error of Metabolism Associated With Mental Deficiency [PDF]

, 1963

openalex   +1 more source

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

New Developments in Screening for Inborn Errors of Metabolism [PDF]

, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +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

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  

Historical aspects of inborn errors of metabolism [PDF]

, 1962
H. M. Sinclair
openalex   +1 more source

Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke, Lahiru Wedasingha, Magnus Rydberg   +2 more
wiley   +1 more source

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Scientific Reports, 2019
Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases.
Alexandra Bower, Apolline Imbard, Jean-François Benoist, Samia Pichard, Odile Rigal, Olivier Baud, Manuel Schiff   +6 more
doaj   +1 more source

Inborn Errors of Metabolism. Part 2: Laboratory Methods [PDF]

, 1966

openalex   +1 more source