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60 in total

Review 1. Sialidosis: a review of human neuraminidase deficiency.

Authors: J A Lowden; J S O'Brien
Journal: Am J Hum Genet Date: 1979-01 Impact factor: 11.025

2. Plasma membrane-associated glycohydrolases activation by extracellular acidification due to proton exchangers.

Authors: Massimo Aureli; Nicoletta Loberto; Rosaria Bassi; Anita Ferraretto; Silvia Perego; Patrizia Lanteri; Vanna Chigorno; Sandro Sonnino; Alessandro Prinetti
Journal: Neurochem Res Date: 2012-02-23 Impact factor: 3.996

3. Properties of N-acetylglucosamine 1-phosphotransferase from human lymphoblasts.

Authors: L Little; M Alcouloumre; A M Drotar; S Herman; R Robertson; R Y Yeh; A L Miller
Journal: Biochem J Date: 1987-11-15 Impact factor: 3.857

4. Ionizing radiations increase the activity of the cell surface glycohydrolases and the plasma membrane ceramide content.

Authors: Massimo Aureli; Rosaria Bassi; Alessandro Prinetti; Elena Chiricozzi; Brigida Pappalardi; Vanna Chigorno; Nadia Di Muzio; Nicoletta Loberto; Sandro Sonnino
Journal: Glycoconj J Date: 2012-05-17 Impact factor: 2.916

5. Prenatal diagnosis of I-cell disease.

Authors: I Matsuda; S Arashima; T Mitsuyama; Y Oka; T Ikeuchi; Y Kaneko; M Ishikawa
Journal: Humangenetik Date: 1975-10-20

6. Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Authors: J G Leroy; R Seppala; M Huizing; G Dacremont; H De Simpel; R N Van Coster; E Orvisky; D M Krasnewich; W A Gahl
Journal: Am J Hum Genet Date: 2001-04-18 Impact factor: 11.025

7. The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.

Authors: A C Sewell
Journal: J Inherit Metab Dis Date: 1983 Impact factor: 4.982

8. Nature of the mutation in adult beta-galactosidase deficient patients.

Authors: J S O'Brien; A G Norden
Journal: Am J Hum Genet Date: 1977-03 Impact factor: 11.025

9. Chromatographic components of beta-hexosaminidase in I-cell disease (mucolipidosis II).

Authors: A F Van Elsen; J G Leroy
Journal: Hum Genet Date: 1979-04-05 Impact factor: 4.132

10. Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

Authors: G H Thomas; C S Miller; K E Toomey; L W Reynolds; M L Reitman; A Varki; A Vannier; K N Rosebaum; W B Bias; B H Schofield
Journal: Am J Hum Genet Date: 1982-07 Impact factor: 11.025