J. Klepper

发表

Exhaled Nitric Oxide in Children after Accidental Exposure to Chlorine Gas

F. Ratjen, H. Grasemann, E. Tschiedel, 2007, Inhalation toxicology.

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

John Bourke, Volker Straub, J. Bourke, 2009, European Journal of Human Genetics.

Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene

M. Willemsen, T. Voit, M. Willemsen, 2001, FEBS letters.

Autosomal dominant transmission of GLUT1 deficiency.

T. Voit, A. Verrips, M. Willemsen, 2001, Human molecular genetics.

Defective Glucose Transport Across Brain Tissue Barriers: A Newly Recognized Neurological Syndrome

J. Vera, Dong Wang, D. D. De Vivo, 1999, Neurochemical Research.

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

A. Nake, H. Scheffer, M. Willemsen, 2005, Neuropediatrics.

Oligoclonal bands predict multiple sclerosis in children with optic neuritis

K. Wenner, M. Buttmann, K. Rostásy, 2015, Annals of neurology.

Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics

D. Rating, G. Kurlemann, M. Wolff, 2016, Neuropediatrics.

Glucose Transporter Type 1 Deficiency Syndrome (Glut1DS): Methylxanthines Potentiate GLUT1 Haploinsufficiency In Vitro

Hong Yang, Dong Wang, D. Vivo, 2001, Pediatric Research.

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

N. Spinner, M. Birnbaum, J. Yeh, 1998, Nature Genetics.

The ketogenic diet in children with Glut1 deficiency syndrome and epilepsy.

K. Rostásy, C. Ebenbichler, G. Luef, 2008, The Journal of pediatrics.

Expect the unexpected: favourable outcome in Munchausen by proxy syndrome

T. Voit, C. Wurthmann, J. Klepper, 2008, European Journal of Pediatrics.

Glucose transporter 1 (GLUT1) deficiency syndrome

J. Klepper, 2010, Journal of Pediatric Neurology.

Repeated detection of gas in the portal vein after liver transplantation: A sign of EBV‐associated post‐transplant lymphoproliferation?

O. Dirsch, E. Sokal, R. Reding, 2002, Pediatric transplantation.

GLUT1 deficiency with delayed myelination responding to ketogenic diet.

H. Scheffer, M. S. van der Knaap, V. Engelbrecht, 2007, Pediatric neurology.

Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet

J. Klepper, 2008, Epilepsia.

Functional consequences of an in vivo mutation in exon 10 of the human GLUT1 gene

P. Lange, J. Klepper, I. Monden, 2003, FEBS letters.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Progressive dystonia in a 12-year-old boy.

Soma Das, G. Raca, J. Coryell, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Epilepsy in shunt‐treated hydrocephalus

H. Strassburg, N. Sörensen, J. Klepper, 1998, Developmental medicine and child neurology.

Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

T. Voit, A. Kohlschütter, J. Klepper, 2004, Prostaglandins, leukotrienes, and essential fatty acids.

Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X)

M. Herbst, T. Kuijpers, B. Grimbacher, 2015, The Pediatric infectious disease journal.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

D. Geschwind, P. Svenningsson, A. Aguzzi, 2013, Nature Genetics.

Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro

T. Voit, J. Fischbarg, A. Flörcken, 2003, European Journal of Pediatrics.

The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis.

G. Coppola, J. Klepper, G. Capano, 2006, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of human genetics.

Hypoglycorrhachia: A simple clue, simply missed

M. Verbeek, M. Willemsen, T. Voit, 2001, Annals of neurology.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review

T. Voit, J. Klepper, 2002, European Journal of Pediatrics.

Erythrocyte 3‐O‐methyl‐D‐glucose uptake assay for diagnosis of glucose‐transporter‐protein syndrome

Dong Wang, D. D. De Vivo, Y. Ho, 1999, Journal of clinical laboratory analysis.

Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan

T. Nakayama, M. Funatsuka, H. Oguni, 2005, Brain and Development.

Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?

T. Voit, D. D. De Vivo, D. Webb, 2003, Pediatric neurology.

Impaired glucose transport into the brain: the expanding spectrum of glucose transporter type 1 deficiency syndrome

J. Klepper, 2004, Current opinion in neurology.

GLUT1-Deficiency: Barbiturates Potentiate Haploinsufficiency in Vitro

J. Vera, Dong Wang, D. Vivo, 1999, Pediatric Research.

Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome

J. Vera, D. D. De Vivo, J. Klepper, 1998, Annals of neurology.