Hohenschutz C, Friedl W, Schlor KH, Waheed A, Conzelmann E, Sandhoff
K, et al.
A series of tests found she had Sandhoff
disease, a genetic illness that destroys nerve cells, and doctors said she would not live beyond the age of four.
Rebekah had moved judges to tears during her audition after she revealed that she had previously lost threeyear-old son Ethan to Sandhoff
Syndrome - a rare inherited disease that progressively attacks the nerve cells in the brain and spinal cord.
Tay Sachs (TSD, OMIM #272800) and Sandhoff
(SD, OMIM #268800) diseases are lysosomal storage disorders (LSD) known as GM2 Gangliosidosis.
He was born with Sandhoff
Syndrome and unable to speak, walk or see.
Conditions associated with hepatosplenomegaly like Gaucher disease, hexosaminidase A deficiency, Sandhoff
disease, Niemann-Pick disease type C, Wolman disease, the mucopolysaccharidoses.
Tay Sachs and Sandhoff
diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Reichelt J, Doering T, Schnetz E, Fartasch M, Sandhoff
K, Magin TM.
Hasilik A, von Figura K, Conzelmann E, Nehrkorn H, Sandhoff
K (1982) Lysosomal enzyme precursors in human fibroblasts.
Metabolik hastaliklarin dagilimi Glikojen depo hastaligi (n=14) 33% Organik asiduriler (n=14) 33% Mitokondriyal hastalik (n=5) 12% MSUD (maple syrup urine 5% disease (n=2) CDG (Konjenital glikozilasyon 5% bozuklugu (n=2) Sandhoff
hastaligi (n=1) 3% HMG CoA liyazeksikligi (n=1) 3% [beta] ketotialaz eksikligi (n=1) 2% OTC (Ornitis trans karbomoilaz) 2% eksikligi (n=1) PKU (Feniketonuri (n=1) 2% Note: Table made from pie chart
Its drug discovery projects include two ongoing lead optimisation programmes, inhibition of heparan sulfate synthesis for MPS III and other MPS disorders and inhibition of ganglioside synthesis for Tay Sachs and Sandhoff
Tay-Sachs ve Sandhoff
hastaliklari, [beta]-hekzoaminidaz bozuklugu sonrasinda GM2 gangliosidlerin noronal lizozomlarda depolanmasi ve progresif noronal dejenerasyonla karakterize olan lipidozlardir.