CDG therapies: From bench to bedside

International Journal of Molecular Sciences

Volumn 19, Issue 5, 2018, Pages

  Brasil, Sandra ^a   Pascoal, Carlota ^a   Francisco, Rita ^a   Marques da Silva, Dorinda ^a   Andreotti, Giuseppina ^b   Videira, Paula A ^a   Morava, Eva ^a,c   Jaeken, Jaak ^a,d   Dos Reis Ferreira, Vanessa ^a  

^a UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^b CNR   (Italy)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Animal models; Biomarkers; Clinical trials; Congenital disorders of glycosylation (CDG); Diagnosis; Dietary supplementation; Galactose; Mannose; Pharmacological chaperones; Therapy

Indexed keywords

2 ACETYLAMINO 2 DEOXY MANNOPYRANOSE; ACETAZOLAMIDE; BIOLOGICAL MARKER; CHAPERONE; GALACTOSE; IMMUNOGLOBULIN; INTERCELLULAR ADHESION MOLECULE 1; N ACETYLNEURAMINIC ACID; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE; NUCLEOTIDE TRANSPORTER; PHOSPHOMANNOMUTASE; PLACEBO; SIALIC ACID; THYROXINE BINDING GLOBULIN; FUCOSE; MANNOSE;

ANTISENSE THERAPY; CELL TRANSPLANTATION; CONGENITAL DISORDER OF GLYCOSYLATION; DIET SUPPLEMENTATION; DISEASE MODEL; ENDOPLASMIC RETICULUM; EXERCISE TOLERANCE; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; GLYCOSYLATION; HEART TRANSPLANTATION; HUMAN; KETOGENIC DIET; LIVER TRANSPLANTATION; NONHUMAN; PHASE 1 CLINICAL TRIAL (TOPIC); PHENOTYPE; PROTEIN EXPRESSION; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SIGNAL TRANSDUCTION; ANIMAL; CLINICAL TRIAL (TOPIC); DIETARY SUPPLEMENT; GENETICS; ORGAN TRANSPLANTATION;

ANIMALS; BIOMARKERS; CLINICAL TRIALS AS TOPIC; CONGENITAL DISORDERS OF GLYCOSYLATION; DIETARY SUPPLEMENTS; DISEASE MODELS, ANIMAL; FUCOSE; GALACTOSE; GENETIC THERAPY; GLYCOSYLATION; HUMANS; MANNOSE; ORGAN TRANSPLANTATION;

EID: 85046299553     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms19051304     Document Type: Review

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