about
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsDeveloping therapeutic approaches for metachromatic leukodystrophyNovel patient cell-based HTS assay for identification of small molecules for a lysosomal storage diseasePyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.Novel parkin mutations detected in patients with early-onset Parkinson's disease.Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher diseaseA high-throughput screening assay using Krabbe disease patient cells.Substrate reduction therapy in juvenile GM2 gangliosidosis.Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease.Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyCharacterization and application of a disease-cell model for a neurodegenerative lysosomal disease.Clinical neurogenetics: neuropathic lysosomal storage disorders.Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum.Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.Clinical variability in KBG syndrome: report of three unrelated families.Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.Expanding CEP290 mutational spectrum in ciliopathiesComparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patientsImpaired P50 sensory gating in Machado-Joseph diseaseFocal dermal hypoplasia associated with split sternum--Goltz syndromeGM2 gangliosidosis: the prototype of lysosomal storage disorders
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Gustavo Maegawa
@ast
Gustavo Maegawa
@en
Gustavo Maegawa
@es
Gustavo Maegawa
@nl
Gustavo Maegawa
@sl
type
label
Gustavo Maegawa
@ast
Gustavo Maegawa
@en
Gustavo Maegawa
@es
Gustavo Maegawa
@nl
Gustavo Maegawa
@sl
prefLabel
Gustavo Maegawa
@ast
Gustavo Maegawa
@en
Gustavo Maegawa
@es
Gustavo Maegawa
@nl
Gustavo Maegawa
@sl
P106
P1153
14522943200
P21
P31
P496
0000-0001-6933-4138