Results 81 to 90 of about 11,541 (279)
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]
, 2016 BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben +8 more
core +1 more source
JIMD Reports, Volume 66, Issue 2, March 2025.ABSTRACT Recent advancements in new‐born screening have reduced the risk of life‐threatening complications associated with inherited metabolic disorders. However, the risk of negative psychosocial effects on families persists. The aim of the present study was to systematically review the literature concerning the psychosocial challenges experienced by ...
Clara Sherlock, Kim Clarke, Norah Jordan
wiley +1 more source
The branched‐chain amino acid‐related isoleucic acid: recent research advances
Plant Biology, Volume 27, Issue 2, Page 195-202, March 2025.Isoleucic acid, detected together with its deactivated glucosylated form in diverse plant species, plays a key role in activating defence responses and inhibiting root growth, although its biosynthetic gene remains elusive. Abstract Isoleucic acid (ILA) was identified in human patients with maple syrup urine disease (MSUD) half a century ago.
D. W. Mekonnen +3 more
wiley +1 more source
Maple Syrup Urine Disease [PDF]
Proceedings of the Royal Society of Medicine, 1968 G. W. Hatcher, C E Dent
openaire +6 more sources
Anästhesie und Ahornsirupkrankheit: Fallbericht und perioperatives anästhesiologisches Management [PDF]
, 2018 Zusammenfassung: Die Ahornsirupkrankheit ist eine seltene autosomal-rezessive Stoffwechselerkrankung, der eine Störung der Decarboxylierung von verzweigtkettigen Aminosäuren zugrunde liegt.
Haberstich, P. +2 more
core
Anaesthetic management in maple syrup urine disease [PDF]
Anaesthesia, 1996 SummaryTwo children with maple syrup urine disease undergoing emergency and elective surgery are reported. The administration of ketamine to a 12‐month‐old boy without neurological problems and propofol infusion to a 5‐year‐old girl with a history of convulsions, was uneventful.
S. Kahraman +5 more
openaire +3 more sources
Clinical Case Reports, Volume 13, Issue 2, February 2025.Key Clinical Message Metronidazole‐induced encephalopathy (MIE) is a rare but reversible condition that can present with nonspecific neurological symptoms, making early recognition and diagnosis challenging. Magnetic resonance imaging (MRI) is crucial in identifying typical brain lesions associated with MIE.
Mahmoud Draidi +5 more
wiley +1 more source
Maple syrup urine disease presenting as severe neonatal metabolic encephalopathy: a case report
, 2020 A study done by Dindagur N et al, found that among 3550 symptomatic Indian children, 113 cases (3.2%) were identified with a metabolic disorder.
R. Patil +4 more
semanticscholar +1 more source
Prenatal Diagnosis, Volume 45, Issue 2, Page 163-170, February 2025.ABSTRACT Objective Advancements in non‐invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions ...
Tierry M. Laforce +3 more
wiley +1 more source
Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease
Case Reports in Dermatological Medicine, 2017 Introduction. Maple syrup urine disease (MSUD) is an inborn error of branched chain amino acids (BCAAs) metabolism. We report an infant with MSUD who developed 2 episodes of cutaneous lesions as a result of isoleucine deficiency and zinc deficiency ...
Jaraspong Uaariyapanichkul +4 more
doaj +1 more source