The genetics of sphingolipid hydrolases and sphingolipid storage diseases. | Sig

The genetics of sphingolipid hydrolases and sphingolipid storage diseases. by Edward H Schuchman, Calogera M Simonaro. Handbook of experimental pharmacology. Read more related scholarly scientific...

Glycogen storage disease type III: MedlinePlus Genetics

Frequency · Causes · Inheritance · Other Names for This Condition · Additional Information & Resources · References

Molecular digital data storage using DNA | Nature Reviews Genetics

Molecular data storage is an attractive alternative for dense and durable information storage, which is sorely needed to... DNA is a clear example of effective archival data storage in...

The genetics of sphingolipid hydrolases and sphingolipid storage diseases

This review focuses on the genetics of sphingolipid storage diseases and related hydrolytic enzymes with an emphasis on the relationship between genetic mutations and human disease.

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediate

Affiliations 1 1 Division of Medical Genetics, Department of Pediatrics, Duke University... Abstract Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV...

NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS) | National Insti

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Genetics of Glycogen-Storage Disease Type II (Pompe Disease): Background, Pathophysiology, Epidemiology

Background ; Glycogen-storage disease type II (GSD II), also known as Pompe disease, is part of a group of metabolic diseases called lysosomal storage disorders (LSDs). [1] GSD II is an autosomal-recessive disorder that results from deficiency of acid alpha-glucosidase (also known as acid maltase), a lysosomal hydrolase. The cellular role of acid alpha-glucosidase is to convert glycogen into glucose within the lysosomes. The Danish pathologist Joannes Cassianus Pompe first described this disease...

Glycogen Storage Disease Type V - GeneReviews® - NCBI Bookshelf

Method, Proportion of Pathogenic Variants 2 Detectable by Method ; Sequence analysis, 99% ; Gene-targeted deletion/duplication analysis, Unknown 6, 7

Glycogen storage disease type IV: MedlinePlus Genetics

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. Explore symptoms, inheritance, genetics of this cond...

Glycogen storage disease type VII: MedlinePlus Genetics

Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. Explore symptoms, inheritance, genetics of...