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Descriptor English: Glycogen Storage Disease
Descriptor Spanish: Enfermedad del Almacenamiento de Glucógeno
Descriptor enfermedad por almacenamiento de glucógeno
Entry term(s) enfermedad por depósito de glucógeno
glucogenosis
Scope note: Grupo de trastornos congénitos del metabolismo en el que participan enzimas responsables de la síntesis y degradación del glucógeno. En algunos pacientes existe una importante participación hepática. En otros hay un almacenamiento generalizado de glucógeno, en ocasiones con marcada afectación cardíaca.
Descriptor Portuguese: Doença de Depósito de Glicogênio
Descriptor French: Glycogénose
Entry term(s): Disease, Glycogen Storage
Diseases, Glycogen Storage
Glycogen Storage Diseases
Glycogenoses
Glycogenosis
Storage Disease, Glycogen
Storage Diseases, Glycogen
Tree number(s): C16.320.565.202.449
C18.452.648.202.449
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D006008
Scope note: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Annotation: an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 89; was GLYCOGENOSIS 1963-88
Online Note: use GLYCOGEN STORAGE DISEASE to search GLYCOGENOSIS 1966-88
History Note: 89; was GLYCOGENOSIS 1963-88
Entry Version: GLYCOGEN STORAGE DIS
DeCS ID: 24388
Unique ID: D006008
NLM Classification: WD 205.5.C2
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1989/01/01
Date of Entry: 1999/01/01
Revision Date: 2006/07/05
Glycogen Storage Disease - Preferred
Concept UI M0009469
Scope note A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
Preferred term Glycogen Storage Disease
Entry term(s) Disease, Glycogen Storage
Diseases, Glycogen Storage
Glycogen Storage Diseases
Glycogenoses
Glycogenosis
Storage Disease, Glycogen
Storage Diseases, Glycogen



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