Glycogen storage disease due to glycogenin deficiency (Q84802): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A doença de depósito de glicogênio tipo XV é uma doença de depósito de glicogênio genética extremamente rara relatada em um paciente até o momento. Os sinais clínicos incluíram fraqueza muscular, arritmia cardíaca associada a depósito anormal no coração e depleção de glicogênio no músculo esquelético. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/623301128 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_623301128 | |||||||||||||||
| Property / CURIE: CID11:ID_623301128 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_623301128 | |||||||||||||||
| Property / Canary Token: dki-india-ID_623301128 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 10:09, 15 August 2026
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_623301128 |
||
| English | Glycogen storage disease due to glycogenin deficiency |
Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. |
Statements
CID11:ID_623301128
0 references
dki-india-ID_623301128
0 references
Concluído
0 references
13 August 2026
0 references
