PUBLICATIONS:

Original Research Articles:

1.      Seidner G, Alvarez MG, Yeh JI, O'Driscoll KR, Klepper J, Stump TS, Wang D, Spinner NB, Birnbaum MJ, De Vivo DC.  GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998; 18(2): 188-91.

2.      Klepper J, Fischbarg J, Vera JC, Wang D, De Vivo DC.  GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro Pediatr Res 1999; 46(6): 677-83.

3.      Klepper J, Alvarez MG, O'Driscoll KR, Parides MK, Wang D, Ho YY, De Vivo DC.  Erythrocyte 3-o-methyl-D-glucose uptake assay for diagnosis of Glucose -Transporter-Protein-Syndrome. J Clin Lab Anal 1999; 13:116-121.

4.      Klepper J, Wang D, Fischbarg J, Vera JC, Jarjour IT, O'Driscoll KR, De Vivo DC.  Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. Neurochem Res 1999; 24(4): 587-94.

5.      Wang D, Kranz-Eble P, De Vivo DC.  Mutational analysis of GLUT1 in the Glut-1 Deficiency Syndrome. Hum Mutat 2000; 16:224-231.

6.      Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC. Glucose Transporter Type-1 Deficiency Syndrome (Glut-1DS): Methylxanthines Potentiate Glut-1 Haploinsufficiency in vitro. Pediatric Research 2001; 50: 254-260.

7.      Brockmann K, Wang D, Korenke CG, Moers Av, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, and De Vivo DC. Autosomal Dominant Glut-1 Deficiency Syndrome and Familial Epilepsy. Ann Neurol 2001; 50: 476-485.

8.      Ho Y-Y, Wang D, De Vivo DC. Glucose Transporters. Wiley Encyclopedia of Molecular Medicine 2001; 5:1441-1446. 

9.      von Moers A, Brockmann K, Wang D, Korenke CG, Huppke P, De Vivo DC, and Hanefeld F. EEG Features of Glut-1 Deficiency Syndrome. Epilepsia. 2002; 43(8): 941-5.

10.  Pascual JM, van Heertum RL, Wang D, Engelstad K, De Vivo DC. Imaging the metabolic   footprint of Glut1 deficiency on the brain. Ann Neurol 2002; 52(4): 458-64.

11.  De Vivo DC, Wang D, Pascual JM, Ho Y-Y. Glucose transporter protein deficiency syndromes. Int Rev Neurobiol 2002; 51:259-88.

12.  De Vivo DC, Leary L, Wang D. Glut-1 Deficiency Syndrome and Other Glycolytic Defects. J Child Neurol 2002; 17(3): 3S15-25.

13.  Wang D, Iserovich P, Ma L, Yang H, Zuniga FA, Shi G, Haller JF, Wen Q, Pascual JM, Kuang K, De Vivo DC, Fischbarg J. Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer. J. Biol. Chem. 2002; 277:30991-30997.

14.  Leary LD, Wang D, Nordli DR, Engelstad K, De vivo DC. Seizure characterization and electrographic features in Glut-1 deficiency syndrome.  Epilepsia, 2003; 44(5): 701-707.

15.  Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Kranz-Eble P, Fischbarg J, De Vivo DC. Functional studies of Thr310 mutations in Glut-1: T310I is a pathogenic mutation of Glut-1 deficiency.  J. Biol. Chem. 2003; 278(49):49015-21.

16.  Overweg-Plandsoen WCG, Groener JEM, Wang D, Onkenhout P, Brouwer OF, Bakker HD, De Vivo DC. GLUT1 deficiency without epilepsy -an exceptional case. J. Inherit. Metab. Dis. 2003; 26(6): 559-563.

17.Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome (In Spanish). Rev Neurol. 2004; 38(9):860-4.

18.GLUT1 deficiency and other glucose transporter diseases. Eur J Endocrinol. 2004; 150(5):627-33.

19., Pascual JM, Yang H, Mao X, Engelstad K, Jhung S, De Vivo DC. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann Neurol. 2005 57(1):111-8.

20.  Wang D, Sun RP, Wang X, Yang R, Yang H, Pascual JM, De Vivo DC. Glucose transporter protein syndromes (In Chinese).  J. Chinese Pediatrics. 2005; 42(10):756-758.

21.  Friedman JR, Thiele EA, Wang D, Levine KB, Cloherty EK, Pfeifer H, De Vivo DC, Carruthers A, Natowicz M. Atypical GLUT1 Deficiency: Movement Disorder and Sleep Disturbance Responsive to Ketogenic Diet. Mov Disord. 2006; 21(2):241-5.

22.  Wang D, Pascual JM, Yang H, Engelstad K, Mao X, Cheng J, Yoo J, Noebels JL, De Vivo DC  . A mouse model for Glut-1 haploinsufficiency. Hum Mol Genet, 2006; 15(7):1169-79.

23.  Coman DJ, Sinclair KG, Burke CJ, Appleton DB, Pelekanos JT, O'Neil CM, Wallace GB, Bowling FG, Wang D, De Vivo DC, McGill JJ. Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome. J Paediatr Child Health 2006;42(5):263-7.

24.  Fujii T, Ho YY,  Wang D, De Vivo DC,  Miyajima T, Wong HY, Tsang PT, Shirasaka Y, Kudo T and Ito M. Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain & Dev. 2007; 29(2):92-97.

25.  Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL, De Vivo DC. Brain glucose supply and the syndrome of infantile neuroglycopenia. Archives of Neurology, 2007, 64: 507-513.

26.  Joshi C, Greenberg CR, De Vivo DC, Wang D, Chan-Lui W and Booth F. Glut 1 deficiency without epilepsy- yet another case. J Child Neurol, 2008; 23(7): 832-4.

27.  Pascual JM, Wang D, Yang R, Shi L, Yang H, and Darryl  DC. Membrane helix 4 and other crucial structural signatures of Glut-1: Inferences from blood brain glucose transport mutants, JBC, 2008; 283(24): 16732-42.

28.  Tanji K, Kaufmann K, Naini AB, Parsons TC,  Wang D, Wiley J, Lu JS, Shanske S, Hirano M, Khandji AJ, DiMauro S and Rowland LP. A Novel tRNAVal Mitochondrial DNA Mutation Causing MELAS. J Neurol Sci, 2008; 270(1-2): 23-7.

29.  Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM,  and  De Vivo DC. Functional studies of the T295M mutation Causing Glut1 Deficiency: Glucose efflux preferentially affected by T295M. Ped Res, 2008; 64(5): 538-543.

30.  Wang D, Yang H,  De Braganca KC,  Lu JS,   Shih LY,  Briones P,   and De Vivo DC. The Molecular Basis of Pyruvate Carboxylase Deficiency: Mosaicism correlates with prolonged survival. Mol Genet Metab, 2008; 95(1-2): 31-8.

31.  De Vivo, Wang D.  Glut1 Deficiency: CSF Glucose. How low is too low?  Revue neurologique, 2008; 164: 877-880.

32.  Akman CI, Engelstad K, Hinton VJ, Ullner P, Koenigsberger D, Leary L, Wang D, De Vivo DC: Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency. Annals of neurology. 2009; 67(1): 31-40.

33.  Robbins MS, Wang D, DeOrchis VS. Methylprednisolone for Status Migrainous Vertigo and Cephalic Status Migrainosus. Headache. 2009; 50(2): 328 – 328.

34.  Ullner PM, Di Nardo A, Goldman JE,Schobel S, Yang H, Engelstad K, Wang D, Sahin M, De Vivo DC. Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. Neurobiology of disease, 2009; 36(1): 60-9.

35.  Rotstein M, Engelstad K, Yang H, Wang D , Levy B, Chung W K, De Vivo DC. Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency. Ann Neurol. 2010; 68(6): 955-8.

36.  Levy B, Wang D, Ullner PM, Engelstad K, Yang H, Nahum O, Chung WK, De Vivo DC. Uncovering Microdeletions in Patients with Severe Glut-1 Deficiency Syndrome Using SNP Oligonucleotide Microarray Analysis. Molecular Genetics and Metabolism. Mol Genet Metab. 2010; 100(2): 129-35.

37.  Fuji T, Morimoto M, Yoshioka H, Ho YY, Law PY, Wang D, De Vivo DC. T295M associated glut-1 deficiency syndrome with normal erythrocyte 3-OMG uptake.  Brain Dev. 2011; 33: 316-320.

38.  Wang D, Yang H, Engelstad K, Bagay L,Wei Y, Rotstein M, Aggarwal V,  Levy B, Ma LJ, Chung WK, De Vivo  DC. Glut1 deficiency syndrome and erythrocyte glucose uptake assay. Ann Neurol. 2011; 70(6): 996–1005.

39.  Liu YY， Bao XH， Wang D， Fu N， Zhang XY， Cao GN， Song FY， Wang S， Zhang YH， QinJ， Yang H， Engelstad K， De Vivo DC， Wu XR.  Allelic Variations of Glut1 Deficiency Syndrome: The Chinese Experience. Pediatr Neurol. 2012, 47(1):30-4.

 

 

Peer-reviewed on-line chapter

• Wang D, De Vivo D. Pyruvate Carboxylase Deficiency. 2009 Jun 2 [Updated 2011 Jul 21]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.

        http://www.ncbi.nlm.nih.gov/books/NBK6852/

 

• Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome. 2002 Jul 30 [Initial Posting: July 30, 2002; Last Update: August 9, 2012]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 

       http://www.ncbi.nlm.nih.gov/books/NBK1430/