The rapidly evolving view of lysosomal storage diseases
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …
several components of lysosomal function. Most commonly affected are lysosomal …
Mass spectrometry-based proteomics as an emerging tool in clinical laboratories
AG Birhanu - Clinical Proteomics, 2023 - Springer
Mass spectrometry (MS)-based proteomics have been increasingly implemented in various
disciplines of laboratory medicine to identify and quantify biomolecules in a variety of …
disciplines of laboratory medicine to identify and quantify biomolecules in a variety of …
Proteomics reveals that methylmalonyl-CoA mutase modulates cell architecture and increases susceptibility to stress
Methylmalonic acidemia (MMA) is a rare inborn error of metabolism caused by deficiency of
the methylmalonyl-CoA mutase (MUT) enzyme. Downstream MUT deficiency, methylmalonic …
the methylmalonyl-CoA mutase (MUT) enzyme. Downstream MUT deficiency, methylmalonic …
Diagnosing rare diseases after the exome
High-throughput sequencing has ushered in a diversity of approaches for identifying genetic
variants and understanding genome structure and function. When applied to individuals with …
variants and understanding genome structure and function. When applied to individuals with …
Dynamic interactomics by cross-linking mass spectrometry: map** the daily cell life in postgenomic era
The majority of processes that occur in daily cell life are modulated by hundreds to
thousands of dynamic protein–protein interactions (PPI). The resulting protein complexes …
thousands of dynamic protein–protein interactions (PPI). The resulting protein complexes …
Targeted metabolomic analysis of a mucopolysaccharidosis IIIB mouse model reveals an imbalance of branched-chain amino acid and fatty acid metabolism
Mucopolysaccharidoses (MPSs) are inherited disorders of the glycosaminoglycan (GAG)
metabolism. The defective digestion of GAGs within the intralysosomal compartment of …
metabolism. The defective digestion of GAGs within the intralysosomal compartment of …
Advances in proteomic profiling of pediatric kidney diseases
Chronic kidney disease (CKD) can progress to kidney failure and require dialysis or
transplantation, while early diagnosis can alter the course of disease and lead to better …
transplantation, while early diagnosis can alter the course of disease and lead to better …
Need and challenges in establishing newborn screening programs for inherited metabolic disorders in develo** countries
Even in this post genomic era, no national level newborn screening (NBS) programs for
inborn errors of metabolism (IEMs) are yet available in several develo** countries …
inborn errors of metabolism (IEMs) are yet available in several develo** countries …
Identification of volatile compounds from bacteria by spectrometric methods in medicine diagnostic and other areas: current state and perspectives
N Kunze-Szikszay, M Euler, T Perl - Applied Microbiology and …, 2021 - Springer
Diagnosis of bacterial infections until today mostly relies on conventional microbiological
methods. The resulting long turnaround times can lead to delayed initiation of adequate …
methods. The resulting long turnaround times can lead to delayed initiation of adequate …
Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability
AL Bruel, A Vitobello, F Tran Mau‐Them… - Clinical …, 2020 - Wiley Online Library
Recent advances in next‐generation sequencing (NGS) technologies have revolutionized
the field of human genetics. Alongside a broad panel of bioinformatics tools and databases …
the field of human genetics. Alongside a broad panel of bioinformatics tools and databases …