Whole-genome sequencing analysis of human metabolome in multi-ethnic populations
EV Feofanova, MR Brown, T Alkis, AM Manuel… - nature …, 2023 - nature.com
Circulating metabolite levels may reflect the state of the human organism in health and
disease, however, the genetic architecture of metabolites is not fully understood. We have …
disease, however, the genetic architecture of metabolites is not fully understood. We have …
Trident nano-indexing the proteomics table: Next-version clustering of iron carbide NPs and protein corona
Protein corona composition and precise physiological understanding of differentially
expressed proteins are key for identifying disease biomarkers. In this report, we presented a …
expressed proteins are key for identifying disease biomarkers. In this report, we presented a …
Clinical, biochemical, and genetic heterogeneity in glutaric aciduria type ii patients
A Ali, FSA Almesmari, NA Dhahouri, AM Saleh Ali… - Genes, 2021 - mdpi.com
The variants of electron transfer flavoprotein (ETFA, ETFB) and ETF dehydrogenase
(ETFDH) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified …
(ETFDH) are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified …
Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II
HP Kek, WL Tsai, PC Chiu, WH Koh, CC Tsai - Children, 2024 - mdpi.com
Background: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA
dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with …
dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with …
[PDF][PDF] Monogenic causes of severe fetal abnormalities leading to prenatal or perinatal lethality: Lessons from Neu-Laxova syndrome
F Abdelfattah - 2023 - opendata.uni-halle.de
Serine biosynthesis disorders (SBD) are a group of neurological and multisystem disorders
caused by a defect in one of the three synthesizing enzymes of the L-serine biosynthesis …
caused by a defect in one of the three synthesizing enzymes of the L-serine biosynthesis …
Shedding light on the phenotypic–genotypic correlation of rare treatable and potentially treatable pediatric movement disorders
DA Saleh, AAEM Attia - Egyptian Journal of Medical Human Genetics, 2022 - Springer
Background Advances in genetic science have led to the identification of many rare
treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic …
treatable pediatric movements disorders (MDs). We explored the phenotypic–genotypic …
Monogenic causes of severe fetal abnormalities leading to prenatal or perinatal lethality: lessons from Neu-Laxova syndrome
F Abdelfattah - 2023 - repo.bibliothek.uni-halle.de
Serine biosynthesis disorders (SBD) are a group of neurological and multisystem disorders
caused by a defect in one of the three synthesizing enzymes of the L-serine biosynthesis …
caused by a defect in one of the three synthesizing enzymes of the L-serine biosynthesis …
Supplementary Informa. on Methods: Although this review was not prospectively registered with PROSPERO [1], the search
TE Ratnaike - neurologyopen.bmj.com
Genotype groupings: 1) POLG-related mitochondrial diseases, 2) mitochondrial DNA
(mtDNA) diseases 3) other nuclear gene causes of mitochondrial disease as per the list of …
(mtDNA) diseases 3) other nuclear gene causes of mitochondrial disease as per the list of …