Metabolic myopathies in the era of next-generation sequencing
JA Urtizberea, G Severa, E Malfatti - Genes, 2023 - mdpi.com
Metabolic myopathies are rare inherited disorders that deserve more attention from
neurologists and pediatricians. Pompe disease and McArdle disease represent some of the …
neurologists and pediatricians. Pompe disease and McArdle disease represent some of the …
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
JL Goldstein, J McGlaughon, D Kanavy… - Molecular genetics and …, 2023 - Elsevier
Accurate determination of the clinical significance of genetic variants is critical to the
integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical …
integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical …
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
F Sperb-Ludwig, NF Ludwig, GM Rizowy… - … and Molecular Biology, 2023 - SciELO Brasil
Abstract Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused
by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1 …
by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1 …
[引用][C] Progress in hereditary neuropathies, myopathies and motoneuron disorders!
JP Camdessanché, P Laforêt - Revue neurologique, 2023 - pubmed.ncbi.nlm.nih.gov
Progress in hereditary neuropathies, myopathies and motoneuron disorders! Progress in
hereditary neuropathies, myopathies and motoneuron disorders! Rev Neurol (Paris). 2023 …
hereditary neuropathies, myopathies and motoneuron disorders! Rev Neurol (Paris). 2023 …