Reuben Matalon, MD, PhD

  • 7166 Citations
  • 48 h-Index
1966 …2017

Research output per year

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Research Output

2004

Biopterin responsive phenylalanine hydroxylase deficiency

Matalon, R., Koch, R., Michals-Matalon, K., Moseley, K., Surendran, S., Tyring, S., Erlandsen, H., Gamez, A., Stevens, R. C., Romstad, A., Møller, L. B. & Guttler, F., Jan 1 2004, In : Genetics in Medicine. 6, 1, p. 27-32 6 p.

Research output: Contribution to journalArticle

52 Scopus citations

Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: Implications for immune regulation in specific ethnic populations

Rady, P. L., Matalon, R., Grady, J., Smith, E. M., Hudnall, S. D., Kellner, L. H., Nitowsky, H., Tyring, S. K. & Hughes, T. K., Jun 1 2004, In : Genetic Testing. 8, 2, p. 194-203 10 p.

Research output: Contribution to journalArticle

25 Scopus citations

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Erlandsen, H., Pey, A. L., Gámez, A., Pérez, B., Desviat, L. R., Aguado, C., Koch, R., Surendran, S., Tyring, S., Matalon, R., Scriver, C. R., Ugarte, M., Martínez, A. & Stevens, R. C., Nov 30 2004, In : Proceedings of the National Academy of Sciences of the United States of America. 101, 48, p. 16903-16908 6 p.

Research output: Contribution to journalArticle

138 Scopus citations

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

Surendran, S., Rady, P. L., Szucs, S., Michals-Matalon, K., Tyring, S. K. & Matalon, R., Apr 30 2004, In : Biochemical and Biophysical Research Communications. 317, 2, p. 522-526 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

Maternal phenylketonuria collaborative study (MPKUCS) - The 'outliers'

Hanley, W. B., Azen, C., Koch, R., Michals-Matalon, K., Matalon, R., Rouse, B., Trefz, F., Waisbren, S. & de la Cruz, F., Nov 10 2004, In : Journal of Inherited Metabolic Disease. 27, 6, p. 711-723 13 p.

Research output: Contribution to journalArticle

8 Scopus citations

Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency

Surendran, S., Ezell, E. L., Quast, M. J., Wei, J., Tyring, S. K., Michals-Matalon, K. & Matalon, R., Mar 18 2004, In : Neuroscience Letters. 358, 1, p. 29-32 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

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

Surendran, S., Shihabuddin, L. S., Clarke, J., Taksir, T. V., Stewart, G. R., Parsons, G., Yang, W., Tyring, S. K., Michals-Matalon, K. & Matalon, R., Oct 15 2004, In : Developmental Brain Research. 153, 1, p. 19-27 9 p.

Research output: Contribution to journalArticle

16 Scopus citations

Therapeutic options in prevention and treatment of aspartoacylase gene mutation resulting abnormalities in Canavan disease

Surendran, S., Tyring, S. K., Michals-Matalon, K. & Matalon, R., Mar 1 2004, In : Current Pharmacogenomics. 2, 1, p. 13-20 8 p.

Research output: Contribution to journalReview article

3 Scopus citations

Trends in enzyme therapy for phenylketonuria

Kim, W., Erlandsen, H., Surendran, S., Stevens, R. C., Gamez, A., Michols-Matalon, K., Tyring, S. K. & Matalon, R., Aug 1 2004, In : Molecular Therapy. 10, 2, p. 220-224 5 p.

Research output: Contribution to journalReview article

47 Scopus citations
2003

Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease

Matalon, R., Surendran, S., Rady, P. L., Quast, M. J., Campbell, G. A., Matalon, K. M., Tyring, S. K., Wei, J., Peden, C. S., Ezell, E. L., Muzyczka, N. & Mandel, R. J., May 1 2003, In : Molecular Therapy. 7, 5 I, p. 580-587 8 p.

Research output: Contribution to journalReview article

53 Scopus citations

Canavan disease: A monogenic trait with complex genomic interaction

Surendran, S., Michals-Matalon, K., Quast, M. J., Tyring, S. K., Wei, J., Ezell, E. L. & Matalon, R., Jan 1 2003, In : Molecular Genetics and Metabolism. 80, 1-2, p. 74-80 7 p.

Research output: Contribution to journalShort survey

36 Scopus citations

Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia

Koch, R., Moseley, K. D., Moats, R., Yano, S., Matalon, R. & Guttler, F., Sep 8 2003, In : Journal of Inherited Metabolic Disease. 26, 4, p. 339-342 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

Surendran, S., Rady, P. L., Michals-Matalon, K., Quast, M. J., Rassin, D. K., Campbell, G. A., Ezell, E. L., Wei, J., Tyring, S. K., Szucs, S. & Matalon, R., Aug 30 2003, In : Brain Research Bulletin. 61, 4, p. 427-435 9 p.

Research output: Contribution to journalArticle

19 Scopus citations

Future Role of Large Neutral Amino Acids in Transport of Phenylalanine into the Brain

Matalon, R., Surendran, S., Matalon, K. M., Tyring, S., Quast, M., Jinga, W., Ezell, E. & Szucs, S., Dec 1 2003, In : Pediatrics. 112, 6 II, p. 1570-1574 5 p.

Research output: Contribution to journalArticle

44 Scopus citations

High Levels of Orexin A in the Brain of the Mouse Model for Phenylketonuria: Possible Role of Orexin A in Hyperactivity Seen in Children with PKU

Surendran, S., Campbell, G. A., Tyring, S. K., Matalon, K., McDonald, J. D. & Matalon, R., Dec 1 2003, In : Neurochemical Research. 28, 12, p. 1891-1894 4 p.

Research output: Contribution to journalArticle

9 Scopus citations

Impact of the Phenylalanine Hydroxylase Gene on Maternal Phenylketonuria Outcome

Güttler, F., Azen, C., Guldberg, P., Romstad, A., Hanley, W. B., Levy, H. L., Matalon, R., Rouse, B. M., Trefz, F., De La Cruz, F. & Koch, R., Dec 1 2003, In : Pediatrics. 112, 6 II, p. 1530-1533 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

Metabolic changes in the knockout mouse for Canavan's disease: Implications for patients with Canavan's disease

Surendran, S., Matalon, K. M., Szucs, S., Trying, S. K. & Matalon, R., Sep 1 2003, In : Journal of Child Neurology. 18, 9, p. 611-615 5 p.

Research output: Contribution to journalArticle

19 Scopus citations

Mild elevation of N-acetylaspartic acid and macrocephaly: Diagnostic problem

Surendran, S., Bamforth, F. J., Chan, A., Tyring, S. K., Goodman, S. I. & Matalon, R., Nov 2003, In : Journal of Child Neurology. 18, 11, p. 809-812 4 p.

Research output: Contribution to journalArticle

20 Scopus citations

Molecular basis of canavan’s disease: From human to mouse

Surendran, S., Matalon, K. M., Tyring, S. K. & Matalon, R., Sep 1 2003, In : Journal of Child Neurology. 18, 9, p. 604-610 7 p.

Research output: Contribution to journalArticle

23 Scopus citations

Polymorphism of MTHFR and MTRR in Czech patients with cardiovascular diseases and stroke

Matalon, R., Rady, S., Szucs, K., Matalon, P., Hyánek, J., Šebesta, P., Matoušková, J., Vondráčková, N., Pejznochová, H., Dubská, L., Přindisová, H., Dvořáková, J., Loučka, M., Martiniková, V. & Šlancová, M., Aug 27 2003, In : Cesko-Slovenska Pediatrie. 58, 7, p. 418-420 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Pregnancy Experiences in the Woman with Mild Hyperphenylalaninemia

Levy, H. L., Waisbren, S. E., Güttler, F., Hanley, W. B., Matalon, R., Rouse, B., Trefs, F. K., De La Cruz, F., Azen, C. G. & Koch, R., Dec 1 2003, In : Pediatrics. 112, 6 II, p. 1548-1552 5 p.

Research output: Contribution to journalArticle

30 Scopus citations

Research Design, Organization, and Sample Characteristics of the Maternal PKU Collaborative Study

Koch, R., Azen, C., Friedman, E., Hanley, W., Levy, H., Matalon, R., Rouse, B., Trefz, F., Ning, J. & De La Cruz, F., Dec 1 2003, In : Pediatrics. 112, 6 II, p. 1519-1522 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

The Maternal Phenylketonuria International Study: 1984-2002

Koch, R., Hanley, W., Levy, H., Matalon, K., Matalon, R., Rouse, B., Trefz, F., Güttler, F., Azen, C., Platt, L., Waisbren, S., Widaman, K., Ning, J., Friedman, E. G. & De La Cruz, F., Dec 1 2003, In : Pediatrics. 112, 6 II, p. 1523-1529 7 p.

Research output: Contribution to journalArticle

94 Scopus citations
2002

Canavan disease prenatal diagnosis and genetic counseling

Matalon, R. & Matalon, K. M., Jul 6 2002, In : Obstetrics and gynecology clinics of North America. 29, 2, p. 297-304 8 p.

Research output: Contribution to journalReview article

13 Scopus citations

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

Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q. H., Tuchman, R., Rady, P. L., Tyring, S. K. & Matalon, R., Dec 15 2002, In : American Journal of Medical Genetics. 113, 4, p. 371-374 4 p.

Research output: Contribution to journalArticle

15 Scopus citations

Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands

Rady, P. L., Surendran, S., Vu, A. T., Hawkins, J. C., Michals-Matalon, K., Tyring, S. K., Merren, J., Kumar, A. K. & Matalon, R., Jan 1 2002, In : Genetic Testing. 6, 3, p. 211-215 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A

Matalon, R. K., Tyring, S. K., Szucs, S., Rady, P. L., Grady, J., Hudnall, S. D., Nitowsky, H. & Kellner, L. H., Jan 15 2002, In : American Journal of Medical Genetics. 107, 2, p. 162-168 7 p.

Research output: Contribution to journalArticle

147 Scopus citations

Hyperhomocysteinaemia, MTHFR or MTRR polymorphism and vitamin supplementation in Czech patients suffering from cardiovascular diseases

Hyánek, J., Matalon, R., Rady, P., Szucs, S., Šebesta, P., Matoušková, J., Pejznochová, H., Dubská, L., Přindisová, H., Dvořáková, J., Loučka, M., Martiníková, V. & Slancová, M., Jan 1 2002, In : Klinicka Biochemie a Metabolismus. 10, 2, p. 72-76 5 p.

Research output: Contribution to journalArticle

1 Scopus citations
2001

Congenital heart disease in maternal phenylketonuria: Report from the Maternal PKU Collaborative Study

Levy, H. L., Guldberg, P., Güttler, F., Hanley, W. B., Matalon, R., Rouse, B. M., Trefz, F., Azen, C., Allred, E. N., De La Cruz, F. & Koch, R., Jan 1 2001, In : Pediatric Research. 49, 5, p. 636-642 7 p.

Research output: Contribution to journalArticle

Open Access
68 Scopus citations

Genetic polymorphism (G80A) of reduced folate carrier gene in ethnic populations

Rady, P. L., Szucs, S., Matalon, R. K., Grady, J., Hudnall, S. D., Kellner, L. H. & Nitowsky, H., Jan 1 2001, In : Molecular Genetics and Metabolism. 73, 3, p. 285-286 2 p.

Research output: Contribution to journalEditorial

18 Scopus citations

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene

Surendran, S., Sacksteder, K. A., Gould, S. J., Coldwell, J. G., Rady, P. L., Tyring, S. K. & Matalon, R., Sep 15 2001, In : Journal of Neuroscience Research. 65, 6, p. 591-594 4 p.

Research output: Contribution to journalArticle

14 Scopus citations
2000

Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease

Leone, P., Janson, C. G., Bilianuk, L., Wang, Z., Sorgi, F., Huang, L., Matalon, R., Kaul, R., Zeng, Z., Freese, A., McPhee, S. W., Mee, E. & During, M. J., Jul 15 2000, In : Annals of Neurology. 48, 1, p. 27-38 12 p.

Research output: Contribution to journalArticle

121 Scopus citations

Erratum: (Annals of Neurology (2000) 48 (27-38))

Leone, P., Janson, C. G., Bilianuk, L., Wang, Z., Sorgi, F., Huang, L., Matalon, R., Kaul, R., Zeng, Z., Freese, A., McPhee, S. W., Mee, E. & During, M. J., Sep 18 2000, In : Annals of Neurology. 48, 3, 1 p.

Research output: Contribution to journalComment/debate

Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

Wong, K., Armstrong, R. C., Gyure, K. A., Morrison, A. L., Rodriguez, D., Matalon, R., Johnson, A. B., Wollmann, R., Gilbert, E., Le, T. Q., Bradley, C. A., Crutchfield, K. & Schiffmann, R., Oct 26 2000, In : Acta Neuropathologica. 100, 6, p. 635-646 12 p.

Research output: Contribution to journalArticle

79 Scopus citations

Knock-out mouse for Canavan disease: A model for gene transfer to the central nervous system

Matalon, R., Rady, P. L., Platt, K. A., Skinner, H. B., Quast, M. J., Campbell, G. A., Matalon, K., Ceci, J. D., Tyring, S. K., Nehls, M., Surendran, S., Wei, J., Ezell, E. L. & Szucs, S., May 1 2000, In : Journal of Gene Medicine. 2, 3, p. 165-175 11 p.

Research output: Contribution to journalArticle

112 Scopus citations

Maternal phenylketonuria: An international study

Koch, R., Hanley, W., Levy, H., Matalon, R., Rouse, B., Trefz, F., Guttler, F., Azen, C., Friedman, E., Platt, L. & De la Cruz, F., Jan 1 2000, In : Molecular Genetics and Metabolism. 71, 1-2, p. 233-239 7 p.

Research output: Contribution to journalArticle

39 Scopus citations

Maternal phenylketonuria syndrome: Congenital heart defects, microcephaly, and developmental outcomes

Rouse, B., Matalon, R., Koch, R., Azen, C., Levy, H., Hanley, W., Trefz, F. & De La Cruz, F., Jan 1 2000, In : Journal of Pediatrics. 136, 1, p. 57-61 5 p.

Research output: Contribution to journalArticle

48 Scopus citations

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Rady, P. L., Penzien, J. M., Vargas, T., Tyring, S. K. & Matalon, R., Jan 2000, In : European Journal of Paediatric Neurology. 4, 1, p. 27-30 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

Outcome at age 4 years in offspring of women with maternal phenylketonuria: The Maternal PKU Collaborative Study

Waisbren, S. E., Hanley, W., Levy, H. L., Shifrin, H., Allred, E., Azen, C., Chang, P. N., Cipeic-Schmidt, S., De La Cruz, F., Hall, R., Matalon, R., Nanson, J., Rouse, B., Trefz, F. & Koch, R., Feb 9 2000, In : Journal of the American Medical Association. 283, 6, p. 756-762 7 p.

Research output: Contribution to journalArticle

Open Access
47 Scopus citations

Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome

Velagaleti, G. V. N., Kumar, A., Lockhart, L. H. & Matalon, R., Jan 1 2000, In : Annales de Genetique. 43, 2, p. 105-107 3 p.

Research output: Contribution to journalArticle

11 Scopus citations

Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.

Matalon, R. M. & Michals-Matalon, K., Mar 1 2000, In : Frontiers in bioscience : a journal and virtual library. 5, p. D307-311

Research output: Contribution to journalReview article

43 Scopus citations

The international collaborative study of maternal phenylketonuria: Status report 1998

Koch, R., Friedman, E., Azen, C., Hanley, W., Levy, H., Matalon, R., Rouse, B., Trefz, F., Waisbren, S., Michals-Matalon, K., Acosta, P., Guttler, F., Ullrich, K., Platt, L. & De la Cruz, F., Oct 2 2000, In : European Journal of Pediatrics, Supplement. 159, 2, p. S156-S160

Research output: Contribution to journalArticle

36 Scopus citations

The international study of pregnancy outcome in women with maternal phenylketonuria: Report of a 12-year study

Platt, L. D., Koch, R., Hanley, W. B., Levy, H. L., Matalon, R., Rouse, B., Trefz, F., De la Cruz, F., Güttler, F., Azen, C. & Friedman, E. G., Jan 1 2000, In : American journal of obstetrics and gynecology. 182, 2, p. 326-333 8 p.

Research output: Contribution to journalArticle

64 Scopus citations
1999

Biochemistry and molecular biology of Canavan disease

Matalon, R. & Michals-Matalon, K., Jan 1 1999, In : Neurochemical Research. 24, 4, p. 507-513 7 p.

Research output: Contribution to journalArticle

47 Scopus citations

Congenital heart disease in maternal phenylketonuria: Effects of blood phenylalanine and nutrient intake

Matalon, K. M., Acosta, P., Azen, C. & Matalon, R., Jun 8 1999, In : Mental Retardation and Developmental Disabilities Research Reviews. 5, 2, p. 122-124 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency

Sacksteder, K. A., Morrell, J. C., Wanders, R. J. A., Matalon, R. & Gould, S. J., Aug 27 1999, In : Journal of Biological Chemistry. 274, 35, p. 24461-24468 8 p.

Research output: Contribution to journalArticle

74 Scopus citations

Methylenetetrahydrofolate reductase (MTHFR): The incidence of mutations C677T and A1298C in the Ashkenazi Jewish population

Rady, P. L., Tyring, S. K., Hudnall, S. D., Vargas, T., Kellner, L. H., Nitowsky, H. & Matalon, R. K., Oct 12 1999, In : American Journal of Medical Genetics. 86, 4, p. 380-384 5 p.

Research output: Contribution to journalArticle

58 Scopus citations

Novel missense mutation (Y231C) in a Turkish patient with Canavan disease [4]

Rady, P. L., Vargas, T., Tyring, S. K., Matalon, R. & Langenbeck, U., Nov 26 1999, In : American Journal of Medical Genetics. 87, 3, p. 273-275 3 p.

Research output: Contribution to journalLetter

14 Scopus citations

Prenatal diagnosis of Canavan disease

Matalon, R. & Michals-Matalon, K., Jul 21 1999, In : Prenatal Diagnosis. 19, 7, p. 669-670 2 p.

Research output: Contribution to journalComment/debate

13 Scopus citations

Recent advances in Canavan disease.

Matalon, R. & Michals-Matalon, K., 1999, In : Advances in pediatrics. 46, p. 493-506 14 p.

Research output: Contribution to journalReview article

28 Scopus citations