Results 111 to 120 of about 4,845,721 (162)

[Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae]. [PDF]

Nervenarzt
Mengel KE, Mendoza G, Mani L, Deckert J, Arash-Kaps L.   +4 more
europepmc   +1 more source

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses. [PDF]

J Neurol
Martakis K, Abreu NJ, Baker JJ, Baker Ii PR, Billington I, Burrow TA, Factor M, Fields T, Fields C, Gannon JL, Grosso M, Kerthi J, Patterson MC, Shayota BJ, Strupp M, Strupp L, Bremova-Ert T.   +16 more
europepmc   +1 more source

Sandhoff, Konrad

, 2016
Sandhoff, Konrad
core  

Sandhoff, M.

, 2016
Sandhoff, M.
core  

Sandhoff disease in the Turkish population

Brain and Development, 1997
Eighteen cases affected by Sandhoff disease were investigated by an enzymatic study of serum and leukocytes during the period 1988-1996, the clinical expression and enzymatic study were reported and discussed. An indirect minimum disease incidence was calculated in the Turkish population.
RENDA, Y, TOPCU, M, Ozkara, HATİCE ASUMAN   +2 more
openaire   +4 more sources

Substrate deprivation therapy in juvenile Sandhoff disease

Journal of Inherited Metabolic Disease, 2009
SummarySubstrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3.5 years with epilepsy and regression in motor ...
S B, Wortmann, D J, Lefeber, G, Dekomien, M A A P, Willemsen, R A, Wevers, E, Morava   +5 more
openaire   +3 more sources

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Cardiac involvement in infantile Sandhoff disease

Journal of Paediatrics and Child Health, 2002
Abstract: An 18‐month‐old boy with enzyme assay‐confirmed infantile Sandhoff disease (MIM 268800) is reported. Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse.
P, Venugopalan, S N, Joshi
exaly   +3 more sources

Thalamic hyperdensity — is it a diagnostic marker for Sandhoff disease?

Brain and Development, 1993
Sandhoff disease, also known as GM2-gangliosidoses variant 0, is caused by the deficient activity of both hexosaminidase A and hexosaminidase B. We report a 15-month-old boy diagnosed with Sandhoff disease by demonstrating the enzyme deficiency. The interesting finding was bilateral thalamic hyperdensity on the CT scan.
Meral Özmen, Michael Beck, M Özmen
exaly   +3 more sources

A novel HEXB mutation and its structural effects in juvenile Sandhoff disease

Molecular Genetics and Metabolism, 2008
Mutations in HEXB, encoding the β-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, Sandhoff disease. A homozygous missense HEXB mutation (p. D459A) was discovered in six patients with a rare juvenile variant: we show that
Timothy Martin Cox, J E Wraith
exaly   +2 more sources

SANDHOFF DISEASE

Acta Pathologica Japonica, 1981
An autopsy case of Sandhoff disease in a 2‐year‐old boy is reported. Diagnosis was established by enzyme assay, which demonstrated total deficiency of hexosaminidase in the serum. Histochemical examination, using hematoxylin‐eosin (H & E) and Luxol fast blue (LFB) stain, showed accumulation of LFB‐positive material not only in cells of the cerebrum,
M, Tatematsu, K, Imaida, N, Ito, H, Togari, Y, Suzuki, T, Ogiu   +5 more
openaire   +2 more sources