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34 in total

1. Plasma beta-N-acetylhexosaminidase isoenzyme composition and temperature conversion factors.

Authors: J A Casal; L F Pérez; J C Tutor
Journal: J Clin Lab Anal Date: 2000 Impact factor: 2.352

2. A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.

Authors: P J Ainsworth; M B Coulter-Mackie
Journal: Am J Hum Genet Date: 1992-10 Impact factor: 11.025

3. Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.

Authors: P A Bolhuis; H Bikker
Journal: Hum Genet Date: 1992-11 Impact factor: 4.132

4. Upregulation of the genes encoding lysosomal hydrolases, a perforin-like protein, and peroxidases in the brains of mice affected with an experimental prion disease.

Authors: J Kopacek; S Sakaguchi; K Shigematsu; N Nishida; R Atarashi; R Nakaoke; R Moriuchi; M Niwa; S Katamine
Journal: J Virol Date: 2000-01 Impact factor: 5.103

5. Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.

Authors: Kartik Venkatachalam; Thomas Hofmann; Craig Montell
Journal: J Biol Chem Date: 2006-04-10 Impact factor: 5.157

6. Analysis of the patterns of expression of mRNAs for the alpha- and beta-subunits of the lysosomal enzyme beta-N-acetylhexosaminidase in mouse epididymis and testis.

Authors: J L Stirling; T Beccari; J Hoade; F Pezzetti; M Calvitti; E Becchetti; A Orlacchio
Journal: Histochem J Date: 1991-10

7. Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

Authors: E C Landels; I H Ellis; A H Fensom; P M Green; M Bobrow
Journal: J Med Genet Date: 1991-03 Impact factor: 6.318

Review 8. The early and late processing of lysosomal enzymes: proteolysis and compartmentation.

Authors: A Hasilik
Journal: Experientia Date: 1992-02-15

9. Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.

Authors: Dae Song Jang; Wenjuan Ye; Tian Guimei; Melani Solomon; Noel Southall; Xin Hu; Juan Marugan; Marc Ferrer; Gustavo H B Maegawa
Journal: J Neurosci Res Date: 2016-11 Impact factor: 4.164

10. An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families.

Authors: H H Ritchie; M R Hughes; E T Thompson; P J Malloy; Z Hochberg; D Feldman; J W Pike; B W O'Malley
Journal: Proc Natl Acad Sci U S A Date: 1989-12 Impact factor: 11.205