Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study
S Yap, D Lamireau, F Feillet, A Ruiz Gomez, J Davison… - Drugs in R&D, 2024 - Springer
Abstract Background and Objective Methylmalonic aciduria (MMA) and propionic aciduria
(PA) are organic acidurias characterised by the accumulation of toxic metabolites and …
(PA) are organic acidurias characterised by the accumulation of toxic metabolites and …
Volumetric absorptive microsampling as an effective microsampling technique for LC–MS/MS bioanalysis of biomarkers in drug discovery
U Kapadnis, C Locuson, H Okamura, GD Rienzo… - Bioanalysis, 2023 - Taylor & Francis
Aim: Develop and validate a volumetric absorptive microsampling (VAMS)-based LC–
MS/MS method to support the bioanalysis of amino acid and carboxylic acid biomarkers in …
MS/MS method to support the bioanalysis of amino acid and carboxylic acid biomarkers in …
[PDF][PDF] 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review
A Pigott, A MacDonald, O Yilmaz, S Kitchen… - Nutrición …, 2018 - redalyc.org
Introducción: la deficiencia de la 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa es un
desorden autosómico recesivo que normalmente se presenta en la infancia con vómitos …
desorden autosómico recesivo que normalmente se presenta en la infancia con vómitos …
Joint representation of molecular networks from multiple species improves gene classification
Network-based machine learning (ML) has the potential for predicting novel genes
associated with nearly any health and disease context. However, this approach often uses …
associated with nearly any health and disease context. However, this approach often uses …
[PDF][PDF] Simplified approach to glutaric acidurias: a Mini-Review
NY Saral, FB Aksungar… - Journal of Rare …, 2019 - rarediseasesjournal.com
Inherited metabolic diseases (IMDs), comprise a large class of genetic diseases affecting the
metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for …
metabolism. Expanded newborn screening from dried dried blood spot (DBS) samples for …
[HTML][HTML] Audit of organic acidurias from a single centre: clinical and metabolic profile at presentation with long term outcome
SP Sindgikar, KD Shenoy, N Kamath… - Journal of Clinical and …, 2017 - ncbi.nlm.nih.gov
Aim To study the clinical and metabolic presentation, management with immediate and long
term outcome of symptomatic children with confirmed OA. Materials and Methods Hospital …
term outcome of symptomatic children with confirmed OA. Materials and Methods Hospital …
Metabolic disorders presenting with seizures in the neonatal period
E Brimble, MRZ Ruzhnikov - Seminars in Neurology, 2020 - thieme-connect.com
Metabolic disorders represent rare but often treatable causes of seizures and epilepsy of
neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to …
neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to …
Is Expanded newborn screening adequate to detect indian biochemical low excretor phenotype patients of glutaric aciduria type I?
M Shaik, KV TP, M Kamate, V AB - The Indian Journal of Pediatrics, 2019 - Springer
Objective To investigate if expanded newborn screening using tandem mass spectroscopy
(TMS) is adequate to detect low excretor phenotype in Indian Glutaric aciduria type I (GA-I) …
(TMS) is adequate to detect low excretor phenotype in Indian Glutaric aciduria type I (GA-I) …
Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations
MP Narayanan, KN Menon, DM Vasudevan - 2013 - nopr.niscpr.res.in
Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA,
BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched …
BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched …