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1

High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin

Sankar Surendran, Peter L Rady, Sylvia Szucs, Kimberlee Michals-Matalon, Stephen K Tyring, Reuben Matalon

Journal:

Biochemical and Biophysical Research Communications

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

2

Biopterin responsive phenylalanine hydroxylase deficiency

Matalon, Reuben, Koch, Richard, Michals-Matalon, Kimberlee, Moseley, Kathryn, Surendran, Sankar, Tyring, Stephen, Erlandsen, Heidi, Gamez, Alejandra, Stevens, Raymond C, Romstad, Anne, Møller, Lisbeth

Journal:

Genetics in Medicine

Year:

2004

Language:

english

File:

PDF, 438 KB

english, 2004

3

Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease

Sankar Surendran, Lamya S. Shihabuddin, Jennifer Clarke, Tatyana V. Taksir, Gregory R. Stewart, Geoffrey Parsons, Wendy Yang, Stephen K. Tyring, Kimberlee Michals-Matalon, Reuben Matalon

Journal:

Developmental Brain Research

Year:

2004

Language:

english

File:

PDF, 1.15 MB

english, 2004

4

Sapropterin dihydrochloride, 6- R -L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria

Michals-Matalon, Kimberlee

Journal:

Expert Opinion on Investigational Drugs

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

5

Canavan disease: a monogenic trait with complex genomic interaction

Sankar Surendran, Kimberlee Michals-Matalon, Michael J Quast, Stephen K Tyring, Jingna Wei, Ed.L Ezell, Reuben Matalon

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 269 KB

english, 2003

6

Hyaluronidase increases the biodistribution of acid α-1,4 glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy

Reuben Matalon, Sankar Surendran, Gerald A. Campbell, Kimberlee Michals-Matalon, Stephen K. Tyring, James Grady, Seng Cheng, Edward Kaye

Journal:

Biochemical and Biophysical Research Communications

Year:

2006

Language:

english

File:

PDF, 363 KB

english, 2006

7

Corrigendum to “Canavan disease: A monogenic trait with complex genomic interaction” [Mol. Genet. Metab. 80 (2003) 74–80]

Sankar Surendran, Kimberlee Michals-Matalon, Michael J. Quast, Stephen K. Tyring, Jingna Wei, Ed L. Ezell, Reuben Matalon

Journal:

Molecular Genetics and Metabolism

Year:

2006

File:

PDF, 63 KB

2006

8

Founder Mutation R245H of Sanfilippo Syndrome Type A in the Cayman Islands

Rady, Peter L., Surendran, Sankar, Vu, Ahn T., Hawkins, Judy C., Michals-Matalon, Kimberlee, Tyring, Stephan K., Merren, Joy, Kumar, Alla K., Matalon, Reuben

Journal:

Genetic Testing

Year:

2002

Language:

english

File:

PDF, 259 KB

english, 2002

9

DOOR syndrome: Deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex

Sankar Surendran, Kimberlee Michals-Matalon, Stephan Krywawych, Qutub H. Qazi, Roberto Tuchman, Peter L. Rady, Stephan K. Tyring, Reuben Matalon

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 144 KB

english, 2002

10

The Effect of Nutrient Intake on Pregnancy Outcome in Maternal Phenylketonuria

RICHARD KOCH, ELIZABETH WENZ, COLLEEN AZEN, EVA G. FRIEDMAN, HARVEY LEVY, FRANCES ROHR, BOBBYE ROUSE, LOIS CASTIGLIONI, REUBEN MATALON, KIMBERLEE MICHALS-MATALON, WILLIAM HANLEY, VALERIE AUSTIN, FELIX

Journal:

Annals of the New York Academy of Sciences

Year:

1993

Language:

english

File:

PDF, 87 KB

english, 1993

11

Biochemistry and Molecular Biology of Canavan Disease

Reuben Matalon, Kimberlee Michals-Matalon

Journal:

Neurochemical Research

Year:

1999

Language:

english

File:

PDF, 1.86 MB

english, 1999

12

Prenatal diagnosis of Canavan disease

Reuben Matalon, Kimberlee Michals-Matalon

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 90 KB

english, 1999

13

Molecular basis of Canavan disease

Reuben Matalon, Kimberlee Michals-Matalon

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 2.58 MB

english, 1998

14

Expression of glutamate transporter, GABRA6, serine proteinase inhibitor 2 and low levels of glutamate and GABA in the brain of knock-out mouse for Canavan disease

Sankar Surendran, Peter L. Rady, Kimberlee Michals-Matalon, Michael J. Quast, David K. Rassin, Gerald A. Campbell, Ed L. Ezell, Jingna Wei, Stephen K. Tyring, Sylvia Szucs, Reuben Matalon

Journal:

Brain Research Bulletin

Year:

2003

Language:

english

File:

PDF, 147 KB

english, 2003

15

SPONGY DEGENERATION OF THE BRAIN, CANAVAN DISEASE: BIOCHEMICAL AND MOLECULAR FINDINGS

Michals-Matalon, Reuben Matalon, Kimberlee

Journal:

Pediatric Pathology & Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 369 KB

english, 1998

16

Nutrient intake and congenital heart defects in maternal phenylketonuria

Kimberlee Michals-Matalon, Lawrence D. Platt, Phyllis Acosta Dr, Colleen Azen, Catherine A. Walla

Journal:

American Journal of Obstetrics and Gynecology

Year:

2002

Language:

english

File:

PDF, 48 KB

english, 2002

17

Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain

Sankar Surendran, Edward L Ezell, Michael J Quast, Jingna Wei, Stephen K Tyring, Kimberlee Michals-Matalon, Reuben Matalon

Journal:

Year:

2004

Language:

english

File:

PDF, 156 KB

english, 2004

18

Mutations in the Regulatory Domain of Phenylalanine Hydroxylase and Response to Tetrahydrobiopterin

Wang, Lin, Surendran, Sankar, Michals-Matalon, Kimberlee, Bhatia, Gita, Tanskley, Susan, Koch, Richard, Grady, James, Tyring, Stephen K., Stevens, Raymond C., Guttler, Flemming, Matalon, Reuben

Journal:

Genetic Testing

Year:

2007

Language:

english

File:

PDF, 296 KB

english, 2007

19

Spongy Degeneration of the Brain, Canavan Disease: Biochemical and Molecular Findings

Matalon, Reuben, Michals-Matalon, Kimberlee

Journal:

Fetal and Pediatric Pathology

Year:

1998

Language:

english

File:

PDF, 1.43 MB

english, 1998

20

Therapeutic Options in Prevention and Treatment of Aspartoacylase Gene Mutation Resulting Abnormalities in Canavan Disease

Surendran, Sankar, Tyring, Stephen, Michals-Matalon, Kimberlee, Matalon, Reuben

Journal:

Current Pharmacogenomics

Year:

2004

Language:

english

File:

PDF, 53 KB

english, 2004

21

Maternal mild hyperphenylalaninemia: Results of treated and untreated pregnancies in two sisters

Harvey L. Levy, Barbara S. Goss, Debra K. Sullivan, Kimberlee Michals-Matalon, June M. Dobbs, Per Guldberg, Flemming Güttler

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 270 KB

english, 1994

22

Response of patients with phenylketonuria in the US to tetrahydrobiopterin

Reuben Matalon, Kimberlee Michals-Matalon, Richard Koch, James Grady, Stephen Tyring, Raymond C. Stevens

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 161 KB

english, 2005

23

Response of Phenylketonuria to Tetrahydrobiopterin

Michals-Matalon, Kimberlee, Bhatia, Gita, Guttler, Flemming, Tyring, Stephen K., Matalon, Reuben

Journal:

Journal of Nutrition

Year:

2007

Language:

english

File:

PDF, 75 KB

english, 2007

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