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Titolo:
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
Autore:
Babovic-Vuksanovic, D; Patterson, MC; Schwenk, WF; OBrien, JF; Vockley, J; Freeze, HH; Mehta, DP; Michels, VV;
Indirizzi:
Mayo Clin & Mayo Fdn, Dept Med Genet, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA Mayo Clin & Mayo Fdn Rochester MN USA 55905 Med, Rochester, MN 55905 USA Mayo Clin & Mayo Fdn, Dept Pathol & Lab Med, Rochester, MN 55905 USA Mayo Clin & Mayo Fdn Rochester MN USA 55905 Med, Rochester, MN 55905 USA Burnham Inst, La Jolla, CA 92037 USA Burnham Inst La Jolla CA USA 92037Burnham Inst, La Jolla, CA 92037 USA
Titolo Testata:
JOURNAL OF PEDIATRICS
fascicolo: 6, volume: 135, anno: 1999,
pagine: 775 - 781
SICI:
0022-3476(199912)135:6<775:SHAAPS>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SYNDROME TYPE-I; N-GLYCOSYLATION; POTENTIAL THERAPY; MANNOSE; GLUCOSE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Babovic-Vuksanovic, D Mayo Clin & Mayo Fdn, Dept Med Genet, Dept Pediat & Adolescent Med, 200 1st St SW, Rochester, MN 55905 USA Mayo Clin & Mayo Fdn200 1st St SW Rochester MN USA 55905
Citazione:
D. Babovic-Vuksanovic et al., "Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome", J PEDIAT, 135(6), 1999, pp. 775-781

Abstract

We describe clinical, biochemical, and molecular findings in a 21/2 year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 13:37:30