Results 181 to 190 of about 3,090 (194)

Juvenile GM2 gangliosidosis: Partial deficiency of bexosaminidase A

The Journal of Pediatrics, 1970
S, Okada, M L, Veath, J S, O'Brien
openaire   +2 more sources

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal Diagnosis, 1995
M C Sa Miranda
exaly  

[GM2 gangliosidosis].

Ryoikibetsu shokogun shirizu, 1999
openaire   +1 more source

Thermodynamic characterisation of the mutated isoenzyme A of β-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

Clinica Chimica Acta, 1999
Luis F Perez, J Antonio Casal, M C Sa Miranda   +2 more
exaly  

Late onset GM2 gangliosidosis presenting with motor neuron disease: An autopsy case

Neuropathology, 2014
Rei Kawashima, Kazuko Hasegawa, Saburo Yagishita   +2 more
exaly  

GM2 Gangliosidosis Type I

2012
openaire   +1 more source

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

Molecular Genetics and Metabolism, 2009
Gustavo H B Maegawa, Christopher P Morgan, Cynthia J Tifft   +2 more
exaly  

[GM2 gangliosidosis].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source

Late onset GM2 gangliosidosis: an α‐locus genetic compound with near normal hexosaminidase activity

Clinical Genetics, 1985
Joel Charrow, David A Wenger
exaly  

GM2 gangliosidosis: the prototype of lysosomal storage disorders

Developmental Medicine & Child Neurology, 2012
openaire   +2 more sources