Reuben Matalon, MD, PhD

  • 7166 Citations
  • 48 h-Index
1966 …2017

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2003

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

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

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

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

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

Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: Report from the maternal phenylketonuria collaborative study

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., Aug 1 1999, In : Pediatrics. 104, 2 I, p. 258-262 5 p.

Research output: Contribution to journalArticle

52 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., Güttler, F., Ullrich, K., Platt, L. & De La Cruz, F., Jun 8 1999, In : Mental Retardation and Developmental Disabilities Research Reviews. 5, 2, p. 117-121 5 p.

Research output: Contribution to journalArticle

9 Scopus citations
1998

A novel mutation in the switch 3 region of G(s)α in a patient with albright hereditary osteodystrophy impairs GDP binding and receptor activation

Warner, D. R., Weng, G., Yu, S., Matalon, R. & Weinstein, L. S., Sep 11 1998, In : Journal of Biological Chemistry. 273, 37, p. 23976-23983 8 p.

Research output: Contribution to journalArticle

55 Scopus citations

Neonatal neurological assessment of offspring in maternal phenylketonuria

Waisbren, S. E., Chang, P., Levy, H. L., Shifrin, H., Allred, E., Azen, C., De La Cruz, F., Hanley, W., Koch, R., Matalon, R. & Rouse, B., Feb 6 1998, In : Journal of Inherited Metabolic Disease. 21, 1, p. 39-48 10 p.

Research output: Contribution to journalArticle

21 Scopus citations

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

Matalon, R. & Michals-Matalon, K., Dec 1 1998, In : Pediatric Pathology and Molecular Medicine. 18, 6, p. 471-481 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

Matalon, R. & Michals-Matalon, K., Dec 1 1998, In : Fetal and Pediatric Pathology. 18, 6, p. 471-481 11 p.

Research output: Contribution to journalArticle

2 Scopus citations

Sulfamidase deficiency in a family of dachshunds: A canine model of mucopolysaccharidosis IIIA (Sanfilippo A)

Fischer, A., Carmichael, K. P., Munnell, J. F., Jhabvala, P., Thompson, J. N., Matalon, R., Jezyk, P. F., Wang, P. & Giger, U., Jul 1998, In : Pediatric Research. 44, 1, p. 74-82 9 p.

Research output: Contribution to journalArticle

Open Access
45 Scopus citations
1997

Canavan disease: Diagnosis and molecular analysis

Matalon, R., Jun 1 1997, In : Genetic Testing. 1, 1, p. 21-25 5 p.

Research output: Contribution to journalArticle

23 Scopus citations

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen

Byers, P. H., Duvic, M., Atkinson, M., Robinow, M., Smith, L. T., Krane, S. M., Greally, M. T., Ludman, M., Matalon, R., Pauker, S., Quanbeck, D. & Schwarze, U., Oct 3 1997, In : American Journal of Medical Genetics. 72, 1, p. 94-105 12 p.

Research output: Contribution to journalArticle

74 Scopus citations

Galactosemia: Promise, frustration and challenge

Matalon, R., Jun 1 1997, In : Journal of the American College of Nutrition. 16, 3, p. 190-191 2 p.

Research output: Contribution to journalArticle

2 Scopus citations

Maternal phenylketonuria collaborative study (MPKUCS) offspring: Facial anomalies, malformations, and early neurological sequelae

Rouse, B., Azen, C., Koch, R., Matalon, R., Hanley, W., De La Cruz, F., Trefz, F., Friedman, E. & Shifrin, H., Mar 3 1997, In : American Journal of Medical Genetics. 69, 1, p. 89-95 7 p.

Research output: Contribution to journalArticle

83 Scopus citations

Phenylketonuria: Current dietary treatment practices in the United States and Canada

Fisch, R. O., Matalon, R., Weisberg, S. & Michals, K., Apr 1 1997, In : Journal of the American College of Nutrition. 16, 2, p. 147-151 5 p.

Research output: Contribution to journalArticle

29 Scopus citations

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome

Jaquez, M., Driscoll, D. A., Li, M., Emanuel, B. S., Hernandez, I., Jaquez, F., Lembert, N., Ramirez, J. & Matalon, R., May 2 1997, In : American Journal of Medical Genetics. 70, 1, p. 6-10 5 p.

Research output: Contribution to journalArticle

18 Scopus citations
1996

Canavan disease

Matalon, R., Jan 1 1996, In : Molecular and Chemical Neuropathology. 27, 1, p. 54-57 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Fragile X syndrome in two siblings with major congenital malformations

Giampietro, P. F., Haas, B. R., Lipper, E., Gutman, A., Zellers, N. J., LaTrenta, G. S., Sklower Brooks, S., Matalon, R., Kaul, R., Ding, X. H. & Brown, W. T., May 17 1996, In : American Journal of Medical Genetics. 63, 2, p. 396-400 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Gene therapy for metachromatic leukodystrophy

Ohashi, T., Watabe, K., Sato, Y., Saito, I., Barranger, J. A., Matalon, R. & Eto, Y., Apr 1996, In : Pediatrics International. 38, 2, p. 193-201 9 p.

Research output: Contribution to journalArticle

5 Scopus citations

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease

Kaul, R., Gao, G. P., Matalon, R., Aloya, M., Su, Q., Jin, M., Johnson, A. B., Schutgens, R. B. H. & Clarke, J. T. R., Jun 27 1996, In : American Journal of Human Genetics. 59, 1, p. 95-102 8 p.

Research output: Contribution to journalArticle

56 Scopus citations

Maternal non-phenylketonuric mild hyperphenylalaninemia

Levy, H. L., Waisbren, S. E., Lobbregt, D., Allred, E., Leviton, A., Koch, R., Hanley, W. B., Rouse, B., Matalon, R. & de la Cruz, F., Jan 1 1996, In : European Journal of Pediatrics. 155, 1 Supplement

Research output: Contribution to journalArticle

11 Scopus citations

Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Collaborative Study

Guldberg, P., Levy, H. L., Hanley, W. B., Koch, R., Matalon, R., Rouse, B. M., Trefz, F., De la Cruz, F., Henriksen, K. F. & Guttler, F., Jun 27 1996, In : American Journal of Human Genetics. 59, 1, p. 84-94 11 p.

Research output: Contribution to journalArticle

76 Scopus citations

The MRI suggests a leukodystrophy, but tests are negative - What should we do? Probing white-matter disorders

Tager, J. M., Moser, H. W., Barker, P. B., Barth, P. G., Boltshauser, E., Campagnoni, A. T., Dawson, G., DeVivo, D. C., Federico, A., Fluharty, A. L., Gieselmann, V., Hodes, M. E., Hurko, O., Jaeken, J., Kruse, B., Matalon, R., Matthieu, J. M., Naidu, S. & Powers, J. M., Feb 20 1996, In : Molecular and Chemical Neuropathology. 27, 1, p. 1-106 106 p.

Research output: Contribution to journalArticle

1995

Canavan disease: From spongy degeneration to molecular analysis

Matalon, R., Michals, K. & Kaul, R., Oct 1995, In : The Journal of Pediatrics. 127, 4, p. 511-517 7 p.

Research output: Contribution to journalArticle

98 Scopus citations

Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency

Ichinose, H., Ohye, T., Matsuda, Y., Hori, T. A., Blau, N., Burlina, A., Rouse, B., Matalon, R., Fujita, K. & Nagatsu, T., Jan 1 1995, In : Journal of Biological Chemistry. 270, 17, p. 10062-10071 10 p.

Research output: Contribution to journalArticle

Open Access
133 Scopus citations

Genomic Organization of Mouse and Human GTP Cyclohydrolase I Genes and Mutations Found in the Human Gene

Ichinose, H., Blau, N., Matalont, R. & Nagatsu, T., Aug 1995, In : Pteridines. 6, 3, p. 104-107 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

Kaul, R., Gao, G. P., Michals, K., Whelan, D. T., Levin, S. & Matalon, R., 1995, In : Human mutation. 5, 3, p. 269-271 3 p.

Research output: Contribution to journalArticle

23 Scopus citations