Orchard Therapeutics, a Kyowa Kirin company, today announced presentations from seven abstracts from across its hematopoietic stem cell (HSC) gene therapy portfolio will be featured at the 21st Annual ...

These children may not have overt signs of an underlying muscle disease (such as fixed ... metabolic myopathies have autosomal recessive inheritance. Glycogenoses, or glycogen storage disorders, are ...

Hydroxychloroquine is a disease-modifying antirheumatic ... This leads to an acquired lysosomal storage disorder due to the inhibition of constitutive autophagy present in normal cardiac myocytes. The ...

Glycogen Storage Diseases (GSDs) are a group of inherited metabolic disorders that result from deficiencies in enzymes responsible for the synthesis or breakdown of glycogen, a stored form of glucose.

Glycogen storage disease type IV (GSD IV), caused by a mutation in the glycogen branching enzyme 1 (GBE1) gene, is a rare metabolic disorder with an autosomal recessive inheritance that involves the ...

The predominant inheritance pattern is autosomal recessive except for Anderson-Fabry disease, glycogen storage disease (GSD) type IIb (Danon disease) and mucopolysaccharidosis (MPS) type II (Hunter ...

This symptom often appears before other visible signs of kidney disease. 7. Dry and itchy skin As kidneys struggle to maintain proper mineral balance, skin often becomes dry and itchy. This ...

Canned foods are often the culprit of this rare, but potentially deadly, condition. The good news is: It's treatable if caught early.

And while it may usually be harmless, such as a minor injury, there are signs that it may be more ... is a hallmark of Lyme disease, a serious bacterial disease. Its bullseye shape will help ...

Health experts have warned that some unusual signs of a potentially deadly disease could appear on the hands. People have been urged to be wary of these symptoms as they could indicate chronic ...

Why silent? The condition doesn't come with any visible signs and symptoms, so it is challenging to spot the disease during its initial phases. But not everyone develops this condition ...