Lysosomal Storage Disease

Lysosomal storage diseases and related disorders are a heterogeneous group of rare diseases caused by genetic mutations that result in deficiencies of specific lysosomal enzymes. Here is the latest research on lysosomal storage diseases.

July 6, 2020
Open Access

Circulating exosomal microRNA as potential biomarkers of hepatic injury and inflammation inGlycogen storage disease type 1a

Disease Models & Mechanisms
Roberta ResazAlessandra Eva
July 10, 2020

Intracranial calcifications in childhood: Part 2

Pediatric Radiology
Fabricio Guimarães GonçalvesArastoo Vossough
July 11, 2020

A prospective harmonized multicentre DTI study of cerebral white matter degeneration in ALS

Sanjay KalraJan Kassubek
July 12, 2020

Serum progranulin levels in pediatric patients with Gaucher disease; relation to disease severity and liver stiffness by transient elastography

Liver International : Official Journal of the International Association for the Study of the Liver
Azza Abdel Gawad TantawyHesham Ibrahim Elsantiel
July 10, 2020
Open Access

Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

BMC Pediatrics
Hasani HewavitharanaJithangi Wanigasinghe
July 7, 2020

Levodopa Positively Affects Neovascular Age-related Macular Degeneration

The American Journal of Medicine
Anna G FigueroaRobert W Snyder
July 7, 2020
Case Report

Tumorigenic Potential of Granulocyte Colony-Stimulating Factor Therapy-A Case Report and Review of Literature

Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons
Omar KholakiThomas Schlieve
July 10, 2020
Case Report

Van der Knaap Disease (Vanishing White Matter) - Unusual Presentation in a Neonate: A Case Report

Neurology India
Malay JhancyReshme Ahamed
July 12, 2020

"Poor medication recall" a euphemism for a broken system?

Academic Emergency Medicine : Official Journal of the Society for Academic Emergency Medicine
Alain Braillon
July 9, 2020
Open Access

Surgical management of submacular hemorrhage due to n-AMD: a comparison of three surgical methods

International Journal of Retina and Vitreous
Carsten GrohmannChristos Skevas
July 10, 2020

PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye

Jennifer RakotomamonjyAlicia Guemez-Gamboa
July 8, 2020

Nephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

Journal of the American Society of Nephrology : JASN
Pablo FlorenzanoMichael T Collins

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