Diagnosis and treatment of congenital disorders of glycosylation / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 318-322, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-882350
ABSTRACT
Congenital disorders of glycosylation(CDG)are a group of rare inherited metabolic diseases due to defects in the glycosylation of glycoproteins and/or glycolipids.Most of them are autosomal recessive and have multisystemic manifestations, which is characterized by dysmorphic facial features, developmental delay, growth failure, hypotonia, neurological abnormalities, hypoglycemia and multisystem disfunctions.Isoelectrofocusing(IEF)analysis of transferrin(Tf)and mass spectrometry(MS)technology can diagnose some subtypes of CDG, while many currently rely on genomic sequencing technology for diagnosis.A few subtypes can be clinically relieved or even cured by treatment, but most have no effective treatment.Development of molecular, biochemical and facial recognition techniques may deepen our understanding of this disease.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
International Journal of Pediatrics
Año:
2021
Tipo del documento:
Artículo
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