GM1 gangliosidosis type 2 in two siblings

scientific article published on April 1, 1992

GM1 gangliosidosis type 2 in two siblings is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1177/08830738920070010711
P698PubMed publication ID1588015

P2093author name stringP. T. Ozand
G. G. Gascon
R. E. Erwin
P2860cites workAssignment of a beta-galactosidase gene (beta GALA) to chromosome 3 in manQ28142273
The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22Q28307095
Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidaseQ33696068
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.Q36305733
The stability and aggregation properties of human liver acid β-d-galactosidaseQ36660402
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Ganglioside loading of cultured fibroblasts: a provocative method for the diagnosis of the GM2 gangliosidosesQ48354883
Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsyQ48515222
Neurophysiological investigations in GM1 and GM2 gangliosidosesQ48631280
Cortical tremor: a variant of cortical reflex myoclonusQ48888249
GM1-gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfateQ48958096
Lactosylceramide galactosidase: Comparison with other sphingolipid hydrolases in developing rat brainQ49011925
Generalized gangliosidosis: beta-galactosidase deficiency.Q51185420
Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.Q51188444
The electrophysiological study of myoclonus in manQ51212458
Blood-Brain and CSF Barriers to Penicillin and Related Organic AcidsQ51231399
Tay‐Sachs' disease with visceral involvement and its relationship to Niemann‐Pick's diseaseQ51313043
P407language of work or nameEnglishQ1860
P921main subjectsiblingQ31184
GM1 gangliosidosis type 2Q61967974
P304page(s)S41-50
P577publication date1992-04-01
P1433published inJournal of Child NeurologyQ6294935
P1476titleGM1 gangliosidosis type 2 in two siblings
P478volume7 Suppl

Reverse relations

cites work (P2860)
Q46815579Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis
Q34941895Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis
Q48496203Heterogeneity of carboxypeptidase activity in infantile-onset galactosialidosis
Q34057718Is central hyperacusis a symptom of 5-hydroxytryptamine (5-HT) dysfunction?
Q47294149Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre
Q38218040Pathogenic role of ganglioside metabolism in neurodegenerative diseases
Q91496689Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content