glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis. The other two types are closely related. Mucolipidosis types II and III...

I-Cell disease. "mucolipidosis II" at Dorland's Medical Dictionary Plante M, Claveau S, Lepage P, et al. (March 2008). "Mucolipidosis II: a single causal...

transplantation. See the equivalent section in the main mucolipidosis article. Mucolipidosis type IV is severely under-diagnosed. It is often misdiagnosed...

Compared to other ethnic groups, they more frequently act as carriers of mucolipidosis and Niemann–Pick disease, the latter of which can prove fatal. The occurrence...

III living in their sixties.[citation needed] As in Mucolipidosis II (I-cell disease), Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase...

Glycoprotein storage disorders (E77.0-E77.1, E75.11) Mucolipidoses; Mucolipidosis IV is a gangliosidosis Also, glycogen storage disease type II (Pompe...

conditions: mucolipidosis II alpha/beta (I-cell disease) - GNPTAB mucolipidosis III alpha/beta (pseudo-Hurler polydystrophy) - GNPTAB mucolipidosis III gamma...

Mucolipidosis type I (ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)...

lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis. In this disorder, excessive amounts of fatty materials known as lipids...

family of TRP ion channels. TRPML1 is a 65 kDa protein associated with mucolipidosis type IV. Its predicted structure includes six transmembrane domains...

gastrin concentration is elevated in virtually all individuals with mucolipidosis type IV (mean 1507 pg/mL; range 400-4100 pg/mL) (normal 0-200 pg/mL)...

Tay–Sachs disease, but also in Niemann–Pick disease, Sandhoff disease, and mucolipidosis. Metabolic Storage Diseases:, Tay–Sachs disease Farber disease GM1 and...

or mucopolysaccharidosis type I H-S Pseudo-Hurler polydystrophy, or mucolipidosis III (ML III) This disambiguation page lists articles associated with...

post-translational modification of lysosomal enzymes Mucolipidosis II (I-cell disease) Mucolipidosis III (pseudo-Hurler polydystrophy) (E77.1) Defects in...

dwarfism, Down syndrome, Parry–Romberg syndrome, Marfan syndrome, mucolipidosis, Frank–ter Haar syndrome, crouzon syndrome, megalocornea-mental retardation...

immunodeficiency Microphthalmia, syndromic 12 Miller syndrome Mohr syndrome Mucolipidosis type II Mucopolysaccharidosis, MPS-I-H/S Multiple congenital...

(such as proton pump inhibitors). A symptom of rare diseases such as mucolipidosis (type IV). A symptom of Helicobacter pylori infection which neutralizes...

Muckle–Wells syndrome Mucoepithelial dysplasia Mucolipidosis type 1 Mucolipidosis type 3 Mucolipidosis type 4 Mucopolysaccharidosis type 3 Mucopolysaccharidosis...

4:10000 in males, 0.9:10000 in females FMR1 gene (on X chromosome) Mucolipidosis type IV 1:90 to 1:100 in Ashkenazi Jews MCOLN1 Other conditions Cystic...

caused by mutations in the CFTR gene, which is a chloride channel. Mucolipidosis type IV is caused by mutations in the gene encoding the TRPML1 channel...

"mucolipin", gets its name from the neurodevelopmental disorder mucolipidosis IV. Mucolipidosis IV was first discovered in 1974 by E.R. Berman who noticed...

syndrome Morquio syndrome type A Morquio syndrome type B MPS 3 C MPS 3 D Mucolipidosis III Mucopolysaccharidosis type 2 Hunter syndrome- mild form Mucopolysaccharidosis...

various, by type Malignant hyperthermia Ligand-gated calcium channel Mucolipidosis type IV Non-selective cation channel Myotonia congenita Voltage-dependent...

cell in both prokaryotes and eukaryotes. They are seen in Mucolipidosis II, and Mucolipidosis III, also called inclusion-cell or I-cell disease where lysosomal...

disease, Bloom Syndrome, Gaucher disease, Niemann-Pick disease, and mucolipidosis IV among certain Jewish communities, is another screening program which...

(type 1) Fanconi anemia (type C) Bloom syndrome Niemann–Pick disease Mucolipidosis type IV Spinal muscular atrophy The samples collected by Dor Yeshorim...

MEGF8-related Carpenter syndrome Microcephaly, primary autosomal dominant Mucolipidosis type II Orofaciodigital syndrome type 14 Paris-Trousseau thrombocytopenia...

Cousins Marry; half of British Pakistanis marry their first cousin; the Mucolipidosis type IV disorder, causing blindness; the reporter's grandparents were...

familial dysautonomia, Bloom syndrome, Fanconi anemia, cystic fibrosis and mucolipidosis IV) is due to the historically isolated population of Jews in Europe...

(Concept Id: C3279843)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03. "Mucolipidosis type II (Concept Id: C2673377)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03...