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174 in total

1. Tissue fractionation studies. 15. Intracellular distribution and properties of beta-N-acetylglucosaminidase and beta-galactosidase in rat liver.

Authors: O Z SELLINGER; H BEAUFAY; P JACQUES; A DOYEN; C DE DUVE
Journal: Biochem J Date: 1960-03 Impact factor: 3.857

2. [Histological methods in differential diagnosis of leukodystrophy from lipoidosis].

Authors: T VON HIRSCH; J PEIFFER
Journal: Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr Date: 1955

3. "I-cell" disease: leakage of lysosomal enzymes into extracellular fluids.

Authors: U Wiesmann; F Vassella; N Herschkowitz
Journal: N Engl J Med Date: 1971-11-04 Impact factor: 91.245

4. The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

Authors: F Van Hoof; H G Hers
Journal: Eur J Biochem Date: 1968-12

5. [Metabolic encephalopathy associating mucopolysaccharidosis and sulfatidosis].

Authors: S Thieffry; G Lyon; P Maroteaux
Journal: Arch Fr Pediatr Date: 1967-04

6. Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

Authors: R N Schimke; W A Horton; C R King
Journal: Lancet Date: 1971-11-13 Impact factor: 79.321

7. I-cell disease: multiple lysosomal-enzyme defect.

Authors: J Lightbody; U Wiesmann; B Hadorn; N Herschkowitz
Journal: Lancet Date: 1971-02-27 Impact factor: 79.321

8. Multiple lysosomal enzyme deficiency due to enzyme leakage?

Authors: U N Wiesmann; J Lightbody; F Vassella; N N Herschkowitz
Journal: N Engl J Med Date: 1971-01-14 Impact factor: 91.245

9. Ocular pathology of the Maroteaux-Lamy syndrome (systemic mucopolysaccharidosis type VI). Histologic and ultrastructural report of two cases.

Authors: K R Kenyon; T M Topping; W R Green; A E Maumenee
Journal: Am J Ophthalmol Date: 1972-05 Impact factor: 5.258

10. Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

Authors: M C MacBrinn; S Okada; M W Ho; C C Hu; J S O'Brien
Journal: Science Date: 1969-02-28 Impact factor: 47.728

5 in total

1. Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Authors: Paulina Nieves Cobos; Cordula Steglich; René Santer; Zoltan Lukacs; Andreas Gal
Journal: JIMD Rep Date: 2014-05-06

2. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Authors: Yu Wang; Jun Ye; Wen-Juan Qiu; Lian-Shu Han; Xiao-Lan Gao; Li-Li Liang; Xue-Fan Gu; Hui-Wen Zhang
Journal: Acta Pharmacol Sin Date: 2018-06-05 Impact factor: 6.150

3. Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis.

Authors: D I McCallum; R F Macadam; A W Johnston
Journal: J Med Genet Date: 1980-02 Impact factor: 6.318

4. Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.

Authors: Wendy E Heywood; Daniela Galimberti; Emily Bliss; Ernestas Sirka; Ross W Paterson; Nadia K Magdalinou; Miryam Carecchio; Emma Reid; Amanda Heslegrave; Chiara Fenoglio; Elio Scarpini; Jonathan M Schott; Nick C Fox; John Hardy; Kailiash Bhatia; Kailash Bahtia; Simon Heales; Neil J Sebire; Henrik Zetterberg; Henrik Zetterburg; Kevin Mills
Journal: Mol Neurodegener Date: 2015-12-01 Impact factor: 14.195

Review 5. The rapidly evolving view of lysosomal storage diseases.

Authors: Giancarlo Parenti; Diego L Medina; Andrea Ballabio
Journal: EMBO Mol Med Date: 2021-01-18 Impact factor: 12.137

5 in total