Abstract is: Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis, and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.
| rare disease | Q929833 |
| class of disease | Q112193867 |
| disease | Q12136 |
| lipid storage disease | Q3540902 |
| P699 | Disease Ontology ID | DOID:0080488 |
| P2888 | exact match | http://identifiers.org/doid/DOID:0080488 |
| http://purl.obolibrary.org/obo/DOID_0080488 | ||
| P494 | ICD-10 ID | E77.1 |
| E77.0 | ||
| P7807 | ICD-11 ID (Foundation) | 714623911 |
| P7329 | ICD-11 ID (MMS) | 5C56.20 |
| P493 | ICD-9 ID | 272.7 |
| P3827 | JSTOR topic ID (archived) | mucolipidoses |
| P486 | MeSH descriptor ID | D009081 |
| P672 | MeSH tree code | C05.116.198.371 |
| C10.228.140.163.100.435.590 | ||
| C16.320.565.189.435.590 | ||
| C16.320.565.202.670 | ||
| C16.320.565.595.554.590 | ||
| C18.452.132.100.435.590 | ||
| C18.452.648.189.435.590 | ||
| C18.452.648.202.670 | ||
| C18.452.648.595.554.590 | ||
| P6366 | Microsoft Academic ID | 2780905385 |
| P10283 | OpenAlex ID | C2780905385 |
| P1550 | Orphanet ID | 79212 |
| P5806 | SNOMED CT ID | 70528007 |
| P1995 | health specialty | endocrinology | Q162606 |
| P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
| Q36812239 | Catabolic disorders of complex carbohydrates |
| Q76959136 | FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT" |
| Q40913507 | I-cell disease (mucolipidosis II or sialidosis |
| Q41040230 | I-cell disease. A hypothesis for the structure of the carbohydrate recognition site on beta-D-N-acetylhexosaminidase |
| Q52723533 | Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease. |
| Q68259993 | Morphologic, clinical and biochemical findings in Mucolipidosis II (author's transl) |
| Q44280762 | Mucolipidosis (Hurler's pseudosyndrome) |
| Q43552022 | Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene |
| Q67046343 | Mucolipidosis. Clinical and biochemical aspects |
| Q91869822 | Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease |
| Q39861268 | beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature |
| Mucolipidosis | wikibooks | |
| Arabic (ar / Q13955) | داء شحمي مخاطي | wikipedia |
| Mukolipidose | wikipedia | |
| Mucolipidosis | wikipedia | |
| Mucolipidosis | wikipedia | |
| Persian (fa / Q9168) | موکولیپیدوزها | wikipedia |
| Mukolipidosis | wikipedia | |
| Mucolipidosi | wikipedia | |
| Mucolipidose | wikipedia | |
| Муколипидоз | wikipedia | |
| Муколіпідоз | wikipedia |
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