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12 in total

1. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.

Authors: H Pilz; H C Hopf
Journal: J Neurol Neurosurg Psychiatry Date: 1972-06 Impact factor: 10.154

2. [Infantile amaurotic idiocy and related forms as ganglioside storage diseases].

Authors: K Sandhoff; H Jatzkewitz; G Peters
Journal: Naturwissenschaften Date: 1969-07

Review 3. Enzyme replacement therapy of Fabry disease.

Authors: Joe T R Clarke; R Mark Iwanochko
Journal: Mol Neurobiol Date: 2005-08 Impact factor: 5.590

Review 4. Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.

Authors: Michela Ranieri; Gloria Bedini; Eugenio Agostino Parati; Anna Bersano
Journal: Curr Treat Options Neurol Date: 2016-07 Impact factor: 3.598

5. The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.

Authors: Michael P Nelson; Michel Boutin; Tonia E Tse; Hailin Lu; Emily D Haley; Xiaosen Ouyang; Jianhua Zhang; Christiane Auray-Blais; John J Shacka
Journal: Neurobiol Dis Date: 2017-12-02 Impact factor: 5.996

Review 6. Genetics of cerebral small vessel disease.

Authors: Jay Chol Choi
Journal: J Stroke Date: 2015-01-30 Impact factor: 6.967

7. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.

Authors: Jarmila Lakomá; Roberto Rimondini; Antonio Ferrer Montiel; Vincenzo Donadio; Rocco Liguori; Marco Caprini
Journal: Mol Pain Date: 2016-08-16 Impact factor: 3.395

8. A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse.

Authors: Seok-Ho Shin; Min-Ho Park; Jin-Ju Byeon; Byeong Ill Lee; Yuri Park; Ah-Ra Ko; Mi-Ran Seong; Soyeon Lee; Mi Ra Kim; Jinwook Seo; Myung Eun Jung; Dong-Kyu Jin; Young G Shin
Journal: Pharmaceutics Date: 2018-06-07 Impact factor: 6.321

Review 9. Anderson-Fabry Disease: From Endothelial Dysfunction to Emerging Therapies.

Authors: Cosimo A Stamerra; Rita Del Pinto; Paolo di Giosia; Claudio Ferri; Amirhossein Sahebkar
Journal: Adv Pharmacol Pharm Sci Date: 2021-05-13

10. Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Authors: Gheona Altarescu; Rachel Beeri; Rachel Eiges; Silvina Epsztejn-Litman; Talia Eldar-Geva; Deborah Elstein; Ari Zimran; Ehud J Margalioth; Ephrat Levy-Lahad; Paul Renbaum
Journal: Mol Biol Int Date: 2012-12-26