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Titolo:
Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
Autore:
de Lonlay, P; Cuer, M; Vuillaumier-Barrot, S; Beaune, G; Castelnau, P; Kretz, M; Durand, G; Saudubray, JM; Seta, N;
Indirizzi:
Hop Bichat Claude Bernard, Dept Biochem, F-75877 Paris 18, France Hop Bichat Claude Bernard Paris France 18 chem, F-75877 Paris 18, France Hop Necker Enfants Malad, Dept Pediat, Paris, France Hop Necker Enfants Malad Paris France Malad, Dept Pediat, Paris, France Hop Debrousse, Dept Biochem, Lyon, France Hop Debrousse Lyon FranceHop Debrousse, Dept Biochem, Lyon, France Hop Civils, Dept Pediat, Colmar, France Hop Civils Colmar FranceHop Civils, Dept Pediat, Colmar, France Fac Pharm Paris 11, Chatenay Malabry, France Fac Pharm Paris 11 Chatenay Malabry France 11, Chatenay Malabry, France Fac Pharm Paris 5, Paris, France Fac Pharm Paris 5 Paris FranceFac Pharm Paris 5, Paris, France
Titolo Testata:
JOURNAL OF PEDIATRICS
fascicolo: 3, volume: 135, anno: 1999,
pagine: 379 - 383
SICI:
0022-3476(199909)135:3<379:HHAAPS>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-I; SERUM; MUTATIONS; THERAPY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Seta, N Hop Bichat Claude Bernard, Dept Biochem, 46 Rue Henri Huchard, F-75877 Paris 18, France Hop Bichat Claude Bernard 46 Rue Henri Huchard ParisFrance 18 ce
Citazione:
P. de Lonlay et al., "Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose", J PEDIAT, 135(3), 1999, pp. 379-383

Abstract

We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly,and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 20:10:26