What (who) is I-cell disease - definition
I-cell disease
HUMAN DISEASE
Mucolipidosis II; Inclusion-cell disease; Inclusion cell disease; Inclusion-Cell Disease; Mucolipidosis Ii; ML II; I cell disease; I Cell disease; I Cell Disease
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins.
Sickle Cell Anemia, a Molecular Disease
SCIENTIFIC ARTICLE
User:Ragesoss/Sickle Cell Anemia, a Molecular Disease
"Sickle Cell Anemia, a Molecular Disease" is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J.
Glycogen storage disease type I
RARE DISEASE
Von Gierke's Disease; Von Gierke disease; Glucose-6-phosphatase deficiency; Von Gierke's disease; GSD type I; Glycogen storage disease type 1B; Glycogen storage disease type i; Gierke's disease; Von Gierke Disease; GSD I; Hepato-renal glycogenesis; Glerke's disease; Glycogen storage disease type 1b; Glycogen storage disease type 1C; Type 1 glycogen storage disease; Von gierke; Von gierke disease; Von Gierke's syndrome
Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable to properly break down stored glycogen. This impairment disrupts the liver's ability to break down stored glycogen that is necessary to maintain adequate blood sugar levels.
