Results 91 to 100 of about 620 (115)

Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs. [PDF]

Ther Adv Rare Dis
Bennett LL.
europepmc   +1 more source

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. [PDF]

Mol Genet Metab
Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA.   +8 more
europepmc   +1 more source

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. [PDF]

Hum Genomics
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J.   +41 more
europepmc   +1 more source

Lentiviral Vector-Mediated <i>Ex Vivo</i> Hematopoietic Stem Cell Gene Therapy for Mucopolysaccharidosis IVA Murine Model. [PDF]

Hum Gene Ther
Celik B, Rintz E, Sansanwal N, Khan S, Bigger B, Tomatsu S.   +5 more
europepmc   +1 more source

Cerebroside sulfatase determination in cultured human fibroblasts

Biochimica et Biophysica Acta (BBA) - Enzymology, 1972
A procedure for the determination of cerebroside sulfatase activity in extracts of cultured human fibroblasts is described. Cerebroside [35S]sulfate prepared from developing rat brain serves as substrate and enzyme activity is estimated by measurement of released inorganic [35S]sulfate.
M T, Porter, A L, Fluharty, S D, De la Flor, H, Kihara   +3 more
core   +4 more sources

Metachromatic leukodystrophy caused by a partial cerebroside sulfatase defect

Clinical Genetics, 1982
A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylsulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with cerebroside sulfate.
H, Kihara, A L, Fluharty, J S, O'Brien, C H, Fish   +3 more
core   +4 more sources

Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency

Metabolic Brain Disease, 1986
Clinical and biochemical findings in a male subject with progressive encephalopathy and peripheral neuropathy are presented. Early development was normal. At age 3.5 years, he had seizures associated with fever. Subsequently, there was progressive neurologic deterioration. A CT brain scan at age 4 years, 2 months demonstrated multiple areas of variable
A L, Fluharty, L, Neidengard, D, Holtzman, H, Kihara   +3 more
core   +4 more sources

Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts

Human Genetics, 1984
Several cases of metachromatic leukodystrophy (MLD) have been described with normal or near normal activities of arylsulfatase A (cerebroside sulfatase). However, the ability of intact cultured fibroblasts to hydrolyze cerebroside sulfate was impaired. Since the impairment was corrected by cerebroside sulfatase activator, a deficiency of activator was ...
H, Kihara, K K, Tsay, A L, Fluharty
core   +4 more sources

Stearoyl[1-14C]sulfogalactosylsphingosine ([14C]sulfatide) as substrate for cerebroside sulfatase assay

Analytical Biochemistry, 1980
Abstract A convenient method for large scale preparation of stearoyl[1- 14 C]sulfogalactosylsphingosine has been developed. The first step consists in preparing the lysosulfatide intermediate with a good yield, which we have successfully performed. In the second step, the lysoderivative is coupled to [1- 14 C]stearic acid through the acyl chloride ...
G, Dubois, B, Zalc, F, Le Saux, N, Baumann   +3 more
core   +4 more sources

The Specificity of Cerebroside Sulfatase Activator

, 1986
The unability for the lysosomal lipid hydrolases to act on their natural substrate alone, has been reported a long time ago (1). They showed the necessity to add a “detergent-like” natural protein called activator protein which allows the hydrolysis of the sulfatides by cerebroside sulfatase.
Gisèle Dubois, Martial Masson, Carole Rosenthal   +2 more
core   +3 more sources