Works matching Fructosemia

Results: 10

A Case Study of a Rare Disease (Fructosemia) Diagnosed in a Patient with Abdominal Pain.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3394, doi. 10.3390/jcm13123394

By:

Garbowski, Leszek;
Walasek, Marzena;
Firszt, Rafał;
Chilińska-Kopko, Ewelina;
Błażejewska-Gała, Paulina;
Popielnicki, Daniel;
Dzięcioł-Anikiej, Zofia

Publication type:

Article

FRUCTOSEMIA.

Published in:

Clinical Pediatrics, 1965, v. 4, n. 10, p. 605, doi. 10.1177/000992286500401008

By:

Levin, B.;
Snodgrass, G. J. A. I.

Publication type:

Article

AMINO ACID METABOLISM IN HEREDITARY FRUCTOSEMIA.

Published in:

Acta Paediatrica, 1970, v. 59, n. 2, p. 141, doi. 10.1111/j.1651-2227.1970.tb08979.x

By:

LINDEMANN, ROLF;
GJESSING, LEIV R.;
MERTON, BRITA;
LÖKEN, AAGOT CHR.;
HALVORSEN, SVERRE

Publication type:

Article

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

Published in:

Genes, 2025, v. 16, n. 5, p. 535, doi. 10.3390/genes16050535

By:

Zawadzki, Jan;
Grenda, Ryszard;
Madej-Pilarczyk, Agnieszka;
Ciara, Elżbieta

Publication type:

Article

Glucose and Fructose Have Sugar-Specific Effects in Both Liver and Skeletal Muscle In Vivo: A Role for Liver Fructokinase.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109726

By:

Fernández-Novell, Josep M.;
Ramió-Lluch, Laura;
Orozco, Anna;
Gómez-Foix, Anna M.;
Guinovart, Joan J.;
Rodríguez-Gil, Joan E.

Publication type:

Article

Nasljedna nepodnošljivost fruktoze - pregled literature i prikaz dvoje bolesnika.

Published in:

Paediatria Croatica, 2021, v. 65, n. 1, p. 36, doi. 10.13112/pc.397

By:

Paponja, Kristina;
Rahelić, Valentina;
Mesarić, Nikola;
Žigman, Tamara;
Škaričić, Ana;
Bilandžija-Kuš, Iva;
Pavić, Eva;
Senečić-Čala, Irena;
Peršić, Mladen;
Vuković, Jurica;
Barić, Ivo;
Ramadža, Danijela Petković

Publication type:

Article

Hypoglycemia In Infancy.

Published in:: Clinical Pediatrics, 1967, v. 6, n. 2, p. 94
Publication type:: Article

Heterogenitatea neurologică la pacienții suspecți pentru tulburările congenitale ale glicozilării din Republica Moldova.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2024, v. 30, n. 3, p. 39

By:

Blăniţă, Daniela;
Boiciuc, Chiril;
Stamati, Adela;
Hadjiu, Svetlana;
Țurea, Valentin;
Sacara, Victoria;
Deleanu, Călin;
Morava, Eva;
Ușurelu, Natalia

Publication type:

Article

DIAGNOSIS DIFFICULTIES IN SEVERE AND CHRONIC HEPATOPATHY WITH EARLY ONSET. CASE REPORT.

Published in:

Romanian Journal of Rheumatology / Revista Romana de Reumatologie, 2014, v. 23, n. 2, p. 164

By:

Iurian, Sorin Ioan;
Wevers, Ron;
Mehedintu, Bogdan

Publication type:

Article

Clinical Practice Guidelines for the Diagnosis and Management of Hereditary Fructose Intolerance.

Published in:

Diseases, 2024, v. 12, n. 3, p. 44, doi. 10.3390/diseases12030044

By:

Úbeda, Félix;
Santander, Sonia;
Luesma, María José

Publication type:

Article