The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
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Investigation and management of the hepatic glycogen storage diseasesNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentRBM4 promotes pancreas cell differentiation and insulin expressionFructose malabsorption.Facilitative plasma membrane transporters function during ER transitA comparative transcriptome analysis identifying FGF23 regulated genes in the kidney of a mouse CKD model.Characterization of the human SLC2A11 (GLUT11) gene: alternative promoter usage, function, expression, and subcellular distribution of three isoforms, and lack of mouse orthologue.The human obesity gene map: the 2002 update.Can diabetes be cured by therapeutic cloning?Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.Hepatic glucose sensing is required to preserve β cell glucose competence.Dual Identification and Analysis of Differentially Expressed Transcripts of Porcine PK-15 Cells and Toxoplasma gondii during in vitro Infection.Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.Phytochemicals targeting genes relevant for type 2 diabetes.Sotagliflozin as a potential treatment for type 2 diabetes mellitus.Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets.Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families.Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome.The Fanconi-Bickel syndrome: a case of neonatal onset.Revisiting the physiological roles of SGLTs and GLUTs using positron emission tomography in mice.Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.Hepatocellular Carcinoma in Fanconi-Bickel Syndrome.Glycogen storage diseases: Diagnosis, treatment and outcomePhysiology of renal glucose handling via SGLT1, SGLT2 and GLUT2The Human Obesity Gene Map: The 2004 UpdateA new mutation of Fanconi–Bickel syndrome with liver failure and pseudotumour cerebri
P2860
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P2860
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
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2002 nî lūn-bûn
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2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@ast
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@en
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@nl
type
label
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@ast
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@en
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@nl
prefLabel
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@ast
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@en
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@nl
P2093
P50
P3181
P1433
P1476
The mutation spectrum of the f ...... s with Fanconi-Bickel syndrome
@en
P2093
Anja Dombrowski
Beat Steinmann
James V Leonard
Jürgen Schaub
Martina Kinner
René Santer
Sebastian Groth
Shimon Moses
Svante Norgren
P2888
P3181
P356
10.1007/S00439-001-0638-6
P407
P577
2002-01-01T00:00:00Z
P5875
P6179
1043041714