Results 151 to 160 of about 6,691 (192)

I-cell病由来の培養皮膚線維芽細胞のSucrose負荷による正常化 [PDF]

カトウ, トモチカ, 加藤, 伴親
core  

Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis. [PDF]

Nature
Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M.   +21 more
europepmc   +1 more source

The SGLT2 Inhibitor Dapagliflozin Disrupts the Cell Cycle at High Concentrations Without Altering Glycosphingolipid (De Novo)Biosynthesis. [PDF]

Int J Mol Sci
Jennemann R, Sandhoff R.
europepmc   +1 more source

Sandhoff's disease GM2 gangliosidosis: Type-2.

Indian pediatrics, 1983
A S, Savliwala, G, Naik, B A, Bharucha, R D, Khare, N B, Kumta   +4 more
openaire   +1 more source

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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

The pathology of Sandhoff's disease

The Journal of Pathology, 1977
We have presented the morbid anatomy of a case of Sandhoff's disease and have attempted to outline morphologic differences which distinguish this entity from other GM2 gangliosidoses. Yet, it may be well to maintain a sceptical eye. The anatomic differences among Tay-Sachs disease and its variants are more quantitative than qualitative and are ...
M G, Hadfield, P, Mamunes, R B, David
openaire   +2 more sources

Pre-embryonic diagnosis for Sandhoff disease

Reproductive BioMedicine Online, 2006
Embryos found to be abnormal during preimplantation genetic diagnosis (PGD) are discarded or analysed to confirm the diagnosis. To overcome this limitation, which is unacceptable in some communities and ethnic groups, pre-embryonic genetic diagnosis has been introduced, involving sequential first and second polar body analysis followed by transfer of ...
Anver, Kuliev, Svetlana, Rechitsky, Katya, Laziuk, Oleg, Verlinsky, Ilan, Tur-Kaspa, Yury, Verlinsky   +5 more
openaire   +2 more sources

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
openaire   +2 more sources

Splicing mutation causes infantile Sandhoff disease

American Journal of Medical Genetics, 1998
no abstract ...
GOMEZ, Maria Macarena, Perusi, C, MOTTES, Monica, PIGNATTI, Pierfranco, RIZZUTO, Nicolo', Gatti, R., SALVIATI, Alessandro   +6 more
openaire   +3 more sources