Results 251 to 260 of about 31,662 (260)

Autosomal Recessive Inheritance of GLUT1 Deficiency Syndrome

Neuropediatrics, 2009
GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission. We report on a six-year-old girl from an inbred Arab family with moderate global developmental delay, epilepsy, ataxia, hypotonia, and hypoglycorrhachia (CSF glucose 36 mg/dL; CSF ...
Klepper, J., Scheffer, H., Elsaid, M.F., Kamsteeg, E.J., Leferink, M., Ben-Omran, T.   +5 more
openaire   +3 more sources

GLUT1 as a therapeutic target in hepatocellular carcinoma

Expert Opinion on Therapeutic Targets, 2009
Primary hepatocellular carcinoma (HCC) is one of the most fatal cancers in humans with rising incidence in many regions around the world. Currently, no satisfactory curative pharmacological treatment is available, and the outcome is mostly poor. Recently, we have shown that the glucose transporter GLUT1 is increased in a subset of patients with HCC and
T. Amann, Claus Hellerbrand
openaire   +3 more sources

The Many Faces of Glut1 Deficiency Syndrome

Journal of Child Neurology, 2013
Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We describe a cohort of isolated and familial cases of glucose transporter protein type 1 deficiency syndrome, emphasizing seizure ...
Keren Porper, Israel Matot, Shai Marcu, Yair Anikster, Dani Bercovich, Bruria Ben Zeev, Shay Menascu, Andreea Nissenkorn, Michal Tzadok   +8 more
openaire   +3 more sources

INV21 GLUT1 deficiency

European Journal of Paediatric Neurology, 2007
openaire   +2 more sources

Paroxysmal Events in Glut1 Deficiency

Neuropediatrics, 2016
Nicole Heussinger, Joerg Klepper, Baerbel Leiendecker   +2 more
openaire   +2 more sources

Rapid activation of GLUT1 by osmotic stress

Biochemical Society Transactions, 1997
L. Felipe Barros, Mark Griffiths, Stephen A. Baldwin   +2 more
openaire   +3 more sources

GLUT1-deficiency syndrome

Neurologie pro praxi, 2022
Ján Necpál, Bibiána Jeleňová
openaire   +1 more source

Glut1 Glucose Transporter 1

2007
S.J. Enna, David B. Bylund
openaire   +2 more sources

Regulation of GLUT1 expression in the mammary gland

Biochemical Society Transactions, 1997
David J. Flint, Colin J. Wilde, Stephen A. Baldwin, Emma R. Hudson, Li-Sha Ma   +4 more
openaire   +3 more sources

STRUCTURE, FUNCTION, AND BIOSYNTHESIS OF GLUT1

Biochemical Society Transactions, 1997
Mike Mueckler, Minoru Sato, Richard C. Hresko   +2 more
openaire   +3 more sources