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Reuben Matalon

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Jill K Northup; Judy C Hawkins; Lillian H Lockhart; Reuben Matalon; Gopalrao Velagaleti
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.
Amanda A Trott; Reuben Matalon
When should children be tested for genetic diseases?
Krystal Revai; Janak A Patel; James J Grady; Sangeeta Nair; Reuben Matalon; Tasnee Chonmaitree
Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media.

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All Publications

2011: Jill K Northup; Judy C Hawkins; Lillian H Lockhart; Reuben Matalon; Gopalrao Velagaleti
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.
European journal of medical genetics 2011;54(4):e394-8.
2009: Amanda A Trott; Reuben Matalon
When should children be tested for genetic diseases?
Pediatrics 2009;124(4):e807-8.
2009: Krystal Revai; Janak A Patel; James J Grady; Sangeeta Nair; Reuben Matalon; Tasnee Chonmaitree
Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2009;49(2):257-61.
2008: Jill K Northup; Kären E Wain; Judy C Hawkins; Reuben Matalon; Gopalrao Velagaleti
First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
American journal of medical genetics. Part A 2008;146A(19):2578-82.
2007: Kimberlee Michals-Matalon; Gita Bhatia; Flemming Guttler; Stephen K Tyring; Reuben Matalon
Response of phenylketonuria to tetrahydrobiopterin.
The Journal of nutrition 2007;137(6 Suppl 1):1564S-1567S; discussion 1573S-1575S.
2007: Reuben Matalon; Kimberlee Michals-Matalon; Gita Bhatia; A B Burlina; A P Burlina; C Braga; L Fiori; M Giovannini; E Grechanina; P Novikov; James Grady; Stephen Tyring; Flemming Guttler
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.
Journal of inherited metabolic disease 2007;30(2):153-8.
2007: Jianfeng Wang; Reuben Matalon; Gita Bhatia; Gusheng Wu; Hong Li; Tong Liu; Zi-Hua Lu; Robert W Ledeen
Bimodal occurrence of aspartoacylase in myelin and cytosol of brain.
Journal of neurochemistry 2007;101(2):448-57.
2007: Lin Wang; Sankar Surendran; Kimberlee Michals-Matalon; Gita Bhatia; Susan Tanskley; Richard Koch; James Grady; Stephen K Tyring; Raymond C Stevens; Flemming Guttler; Reuben Matalon
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
Genetic testing 2007;11(2):174-8.
2006: Janak A Patel; Sangeeta Nair; Krystal Revai; James Grady; Kokab Saeed; Reuben Matalon; Stan Block; Tasnee Chonmaitree
Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media.
Pediatrics 2006;118(6):2273-9.
2006: Reuben Matalon; Kimberlee Michals-Matalon; Gita Bhatia; E Grechanina; P Novikov; J David McDonald; James Grady; Stephen Tyring; Flemming Guttler
Large neutral amino acids in the treatment of phenylketonuria (PKU).
Journal of inherited metabolic disease 2006;29(6):732-8.
2006: Reuben Matalon; Sankar Surendran; Gerald Campbell; Kimberlee Michals-Matalon; Stephen K Tyring; James Grady; Seng Cheng; Edward Kaye
Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.
Biochemical and biophysical research communications 2006;350(3):783-7.
2006: Sankar Surendran; Reuben Matalon; Stephen K Tyring
Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: implications on diabetic neuropathy.
Biochemical and biophysical research communications 2006;345(3):973-5.
2006: Robert W Ledeen; Jianfeng Wang; Gusheng Wu; Zi-Hua Lu; Goutam Chakraborty; Markus F Meyenhofer; Stephen K Tyring; Reuben Matalon
Physiological role of N-acetylaspartate: contribution to myelinogenesis.
Advances in experimental medicine and biology 2006;576():131-43; discussion 361-3.
2006: Reuben Matalon; Kimberlee Michals-Matalon; Sankar Surendran; Stephen K Tyring
Canavan disease: studies on the knockout mouse.
Advances in experimental medicine and biology 2006;576():77-93; discussion 361-3.
2005: Reuben Matalon; Kimberlee Michals-Matalon; Richard Koch; James Grady; Stephen Tyring; Raymond C Stevens
Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
Molecular genetics and metabolism 2005;86 Suppl 1():S17-21.
2005: Sankar Surendran; Dena Matalon; Stephen K Tyring; Peter L Rady; Gopalrao Velagaleti; Reuben Matalon
Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU).
Neuroscience letters 2005;382(3):323-6.
2005: Reuben Matalon; Sankar Surendran; J David McDonald; Anthony O Okorodudu; Stephen Tyring; Kimberlee Michals-Matalon; P Harris
Abnormal expression of genes associated with development and inflammation in the heart of mouse maternal phenylketonuria offspring.
International journal of immunopathology and pharmacology 2005;18(3):557-65.
2005: Sankar Surendran; Sylvia Szucs; Stephen K Tyring; Reuben Matalon
Aspartoacylase gene knockout in the mouse: impact on reproduction.
Reproductive toxicology (Elmsford, N.Y.) 2005;20(2):281-3.
2005: Sankar Surendran; Stephen K Tyring; Reuben Matalon
Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU.
Neurochemistry international 2005;46(8):595-9.
2005: Chikkathur N Madhavarao; Peethambaran Arun; John R Moffett; Sylvia Szucs; Sankar Surendran; Reuben Matalon; James Y Garbern; Diana Hristova; Anne Johnson; Wei Jiang; M A Aryan Namboodiri
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(14):5221-6.
2005: Sankar Surendran; Gerald Campbell; Stephen K Tyring; Reuben Matalon
Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse.
Neurobiology of disease 2005;18(2):385-9.
2004: Heidi Erlandsen; Angel L Pey; Alejandra Gámez; Belén Pérez; Lourdes R Desviat; Cristina Aguado; Richard Koch; Sankar Surendran; Stephen Tyring; Reuben Matalon; Charles R Scriver; Magdalena Ugarte; Aurora Martínez; Raymond C Stevens
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(48):16903-8.
2004: 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
Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease.
Brain research. Developmental brain research 2004;153(1):19-27.
2004: Sankar Surendran; Edward L Ezell; Michael J Quast; Jingna Wei; Stephen K Tyring; Kimberlee Michals-Matalon; Reuben Matalon
Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain.
Brain research 2004;1016(2):268-71.
2004: Woomi Kim; Heidi Erlandsen; Sankar Surendran; Raymond C Stevens; Alejandra Gamez; Kimberlee Michols-Matalon; Stephen K Tyring; Reuben Matalon
Trends in enzyme therapy for phenylketonuria.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;10(2):220-4.
2004: Sankar Surendran; Peter L Rady; Sylvia Szucs; Kimberlee Michals-Matalon; Stephen K Tyring; Reuben Matalon
High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin.
Biochemical and biophysical research communications 2004;317(2):522-6.
2004: Sankar Surendran; Edward L Ezell; Michael J Quast; Jingna Wei; Stephen Tyring; Kimberlee Michals-Matalon; Reuben Matalon
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Neuroscience letters 2004;358(1):29-32.
2004: William B Hanley; Colleen Azen; Richard Koch; Kimberlee Michals-Matalon; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Susan E Waisbren; Felix de la Cruz
Maternal Phenylketonuria Collaborative Study (MPKUCS)--the 'outliers'.
Journal of inherited metabolic disease 2004;27(6):711-23.
2004: Peter L Rady; Reuben Matalon; James Grady; Eric M Smith; S David Hudnall; Leonard H Kellner; Harold Nitowsky; Stephen K Tyring; Thomas K Hughes
Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations.
Genetic testing 2004;8(2):194-203.
2004: Reuben Matalon; Richard Koch; Kimberlee Michals-Matalon; Kathryn Moseley; Sankar Surendran; Stephen Tyring; Heidi Erlandsen; Alejandra Gamez; Raymond C Stevens; Anne Romstad; Lisbeth Birk Møller; Flemming Guttler
Biopterin responsive phenylalanine hydroxylase deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(1):27-32.
2003: Reuben Matalon; Sankar Surendran; Kimberlee Michals Matalon; Stephen Tyring; Michael J Quast; Wei Jinga; Edward L Ezell; Sylvia Szucs
Future role of large neutral amino acids in transport of phenylalanine into the brain.
Pediatrics 2003;112(6 Pt 2):1570-4.
2003: Harvey L Levy; Susan E Waisbren; Flemming Güttler; William B Hanley; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Felix de la Cruz; Colleen Azen; Richard Koch
Pregnancy experiences in the woman with mild hyperphenylalaninemia.
Pediatrics 2003;112(6 Pt 2):1548-52.
2003: Flemming Güttler; Colleen Azen; Per Guldberg; Anne Romstad; William B Hanley; Harvey L Levy; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Felix de la Cruz; Richard Koch
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
Pediatrics 2003;112(6 Pt 2):1530-3.
2003: Richard Koch; William B Hanley; Harvey Levy; Kimberlee Michals Matalon; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Flemming Güttler; Colleen Azen; Lawrence D Platt; Susan E Waisbren; Keith F Widaman; Jiaping Ning; Eva G Friedman; Felix de la Cruz
The Maternal Phenylketonuria International Study: 1984-2002.
Pediatrics 2003;112(6 Pt 2):1523-9.
2003: Richard Koch; Colleen Azen; Eva Friedman; William B Hanley; Harvey Levy; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Jiaping Ning; Felix de la Cruz
Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study.
Pediatrics 2003;112(6 Pt 2):1519-22.
2003: Sankar Surendran; Gerald Campbell; Stephen K Tyring; Kimberlee Michals Matalon; J David McDonald; Reuben Matalon
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.
Neurochemical research 2003;28(12):1891-4.
2003: Sankar Surendran; Fiona J Bamforth; Alicia Chan; Stephen K Tyring; Stephen I Goodman; Reuben Matalon
Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.
Journal of child neurology 2003;18(11):809-12.
2003: Sankar Surendran; Kimberlee Michals Matalon; Sylvia Szucs; Stephen K Tyring; Reuben Matalon
Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease.
Journal of child neurology 2003;18(9):611-5.
2003: Sankar Surendran; Kimberlee Michals Matalon; Stephen K Tyring; Reuben Matalon
Molecular basis of Canavan's disease: from human to mouse.
Journal of child neurology 2003;18(9):604-10.
2003: Sankar Surendran; Kimberlee Michals-Matalon; Michael J Quast; Stephen K Tyring; Jingna Wei; Edward L Ezell; Reuben Matalon
Canavan disease: a monogenic trait with complex genomic interaction.
Molecular genetics and metabolism 2003;80(1-2):74-80.
2003: Sankar Surendran; Peter L Rady; Kimberlee Michals-Matalon; Michael J Quast; David K Rassin; Gerald Campbell; Edward L Ezell; Jingna Wei; Stephen K Tyring; Sylvia Szucs; Reuben Matalon
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.
Brain research bulletin 2003;61(4):427-35.
2003: Reuben Matalon; Sankar Surendran; Peter L Rady; Michael J Quast; Gerald Campbell; Kimberlee Michals Matalon; Stephen K Tyring; Jingna Wei; Carmen S Peden; Nicholas Muzyczka; Edward L Ezell; Ronald J Mandel
Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;7(5 Pt 1):580-7.
2003: Richard Koch; Kathryn Moseley; Rex Moats; Shoji Yano; Reuben Matalon; Flemming Guttler
Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.
Journal of inherited metabolic disease 2003;26(4):339-42.
2002: Sankar Surendran; Kimberlee Michals-Matalon; Stephan Krywawych; Qutub H Qazi; Roberto Tuchman; Peter L Rady; Stephan K Tyring; Reuben Matalon
DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.
American journal of medical genetics 2002;113(4):371-4.
2002: Reuben Matalon; Kimberlee Michals Matalon
Canavan disease prenatal diagnosis and genetic counseling.
Obstetrics and gynecology clinics of North America 2002;29(2):297-304.
2002: Peter L Rady; Sylvia Szucs; James Grady; S David Hudnall; Leonard H Kellner; Harold Nitowsky; Stephen K Tyring; Reuben Matalon
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.
American journal of medical genetics 2002;107(2):162-8.
2002: Peter L Rady; Sankar Surendran; Ahn T Vu; Judy C Hawkins; Kimberlee Michals-Matalon; Stephan K Tyring; Joy Merren; Alla K Kumar; Reuben Matalon
Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands.
Genetic testing 2002;6(3):211-5.
2001: P L Rady; Sylvia Szucs; Reuben Matalon; James Grady; S David Hudnall; Leonard H Kellner; Harold Nitowsky
Genetic polymorphism (G80A) of reduced folate carrier gene in ethnic populations.
Molecular genetics and metabolism 2001;73(3):285-6.
2001: Harvey L Levy; Per Guldberg; Flemming Güttler; William B Hanley; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Colleen Azen; Elizabeth N Allred; Felix de la Cruz; Richard Koch
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.
Pediatric research 2001;49(5):636-42.
2000: Richard Koch; E Friedman; Colleen Azen; William B Hanley; Harvey Levy; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Susan E Waisbren; Kimberlee Michals-Matalon; Phyllis B Acosta; Flemming Güttler; K Ullrich; Lawrence D Platt; Felix de la Cruz
The International Collaborative Study of Maternal Phenylketonuria: status report 1998.
European journal of pediatrics 2000;159 Suppl 2():S156-60.
2000: Richard Koch; William B Hanley; Harvey Levy; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Flemming Guttler; Colleen Azen; E Friedman; Lawrence D Platt; Felix de la Cruz
Maternal phenylketonuria: an international study.
Molecular genetics and metabolism 2000;71(1-2):233-9.
2000: Reuben Matalon; Peter L Rady; K A Platt; Henry Skinner; Michael J Quast; Gerald Campbell; Kimberlee Michals Matalon; J D Ceci; Stephen Tyring; Michael Nehls; Sankar Surendran; Jingna Wei; Edward L Ezell; Sylvia Szucs
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
The journal of gene medicine 2000;2(3):165-75.
2000: Gopalrao Velagaleti; A Kumar; Lillian H Lockhart; Reuben Matalon
Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome.
Annales de génétique 2000;43(2):105-7.
2000: Susan E Waisbren; William B Hanley; Harvey L Levy; H Shifrin; Elizabeth N Allred; Colleen Azen; P N Chang; S Cipcic-Schmidt; Felix de la Cruz; R Hall; Reuben Matalon; J Nanson; Bobbye Rouse; Friedrich K Trefz; Richard Koch
Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study.
JAMA : the journal of the American Medical Association 2000;283(6):756-62.
2000: Lawrence D Platt; Richard Koch; William B Hanley; Harvey L Levy; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Felix de la Cruz; Flemming Güttler; Colleen Azen; E G Friedman
The international study of pregnancy outcome in women with maternal phenylketonuria: report of a 12-year study.
American journal of obstetrics and gynecology 2000;182(2):326-33.
2000: Peter L Rady; J M Penzien; T Vargas; Stephen Tyring; Reuben Matalon
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(1):27-30.
2000: Bobbye Rouse; Reuben Matalon; Richard Koch; Colleen Azen; Harvey Levy; William B Hanley; Friedrich K Trefz; Felix de la Cruz
Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.
The Journal of pediatrics 2000;136(1):57-61.
1999: Peter L Rady; T Vargas; Stephen Tyring; Reuben Matalon; U Langenbeck
Novel missense mutation (Y231C) in a turkish patient with canavan disease.
American journal of medical genetics 1999;87(3):273-5.
1999: Peter L Rady; Stephen Tyring; S David Hudnall; T Vargas; Leonard H Kellner; Harold Nitowsky; Reuben Matalon
Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population.
American journal of medical genetics 1999;86(4):380-4.
1999: Flemming Güttler; Colleen Azen; Per Guldberg; Anne Romstad; William B Hanley; Harvey L Levy; Reuben Matalon; Bobbye Rouse; Friedrich K Trefz; Felix de la Cruz; Richard Koch
Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.
Pediatrics 1999;104(2 Pt 1):258-62.
1999: Reuben Matalon; Kimberlee Michals-Matalon
Prenatal diagnosis of Canavan disease.
Prenatal diagnosis 1999;19(7):669-70.
1999: Reuben Matalon; Kimberlee Michals-Matalon
Biochemistry and molecular biology of Canavan disease.
Neurochemical research 1999;24(4):507-13.
1999: Reuben Matalon; Kimberlee Michals-Matalon
Recent advances in Canavan disease.
Advances in pediatrics 1999;46():493-506.
1998: Susan E Waisbren; P Chang; Harvey L Levy; H Shifrin; Elizabeth N Allred; Colleen Azen; Felix de la Cruz; William B Hanley; Richard Koch; Reuben Matalon; Bobbye Rouse
Neonatal neurological assessment of offspring in maternal phenylketonuria.
Journal of inherited metabolic disease 1998;21(1):39-48.
1998: Reuben Matalon; Kimberlee Michals-Matalon
Molecular basis of Canavan disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1998;2(2):69-76.
1997: Marisela Jaquez-Gutierrez; D A Driscoll; M Li; B S Emanuel; I Hernandez; F Jaquez; N Lembert; J Ramirez; Reuben Matalon
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.
American journal of medical genetics 1997;70(1):6-10.
1997: Bobbye Rouse; Colleen Azen; Richard Koch; Reuben Matalon; William B Hanley; Felix de la Cruz; Friedrich K Trefz; E Friedman; H Shifrin
Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae.
American journal of medical genetics 1997;69(1):89-95.
1997: Reuben Matalon
Canavan disease: diagnosis and molecular analysis.
Genetic testing 1997;1(1):21-5.
1996: William B Hanley; Richard Koch; Harvey L Levy; Reuben Matalon; Bobbye Rouse; Colleen Azen; Felix de la Cruz
The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report.
European journal of pediatrics 1996;155 Suppl 1():S169-72.
1996: Richard Koch; H Levy; William B Hanley; Reuben Matalon; Bobbye Rouse; F Trefz; Felix de la Cruz
Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994.
European journal of pediatrics 1996;155 Suppl 1():S162-4.
1996: E G Friedman; Richard Koch; Colleen Azen; H Levy; William B Hanley; Reuben Matalon; Bobbye Rouse; F Trefz; Felix de la Cruz
The International Collaborative Study on maternal phenylketonuria: organization, study design and description of the sample.
European journal of pediatrics 1996;155 Suppl 1():S158-61.
1996: Harvey L Levy; Susan E Waisbren; D Lobbregt; E Allred; A Leviton; Richard Koch; William B Hanley; Bobbye Rouse; Reuben Matalon; Felix de la Cruz
Maternal non-phenylketonuric mild hyperphenylalaninemia.
European journal of pediatrics 1996;155 Suppl 1():S20-5.
1996: R Kaul; G P Gao; Reuben Matalon; M Aloya; Q Su; M Jin; A B Johnson; R B Schutgens; Joe Clarke
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
American journal of human genetics 1996;59(1):95-102.
1996: Per Guldberg; Harvey L Levy; William B Hanley; R Koch; Reuben Matalon; B M Rouse; F Trefz; Felix de la Cruz; K F Henriksen; Flemming Güttler
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
American journal of human genetics 1996;59(1):84-94.
1995: Reuben Matalon; K Michals; R Kaul
Canavan disease: from spongy degeneration to molecular analysis.
The Journal of pediatrics 1995;127(4):511-7.
1995: R Kaul; G P Gao; K Michals; D T Whelan; S Levin; Reuben Matalon
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.
Human mutation 1995;5(3):269-71.
1995: Reuben Matalon; R Kaul; G P Gao; K Michals; R G Gray; S Bennett-Briton; A Norman; M Smith; C Jakobs
Prenatal diagnosis for Canavan disease: the use of DNA markers.
Journal of inherited metabolic disease 1995;18(2):215-7.
1994: Richard Koch; Harvey L Levy; Reuben Matalon; Bobbye Rouse; William B Hanley; F Trefz; Colleen Azen; E G Friedman; Felix de la Cruz; Flemming Güttler
The international collaborative study of maternal phenylketonuria: status report 1994.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1994;407():111-9.
1994: R Kaul; G P Gao; M Aloya; K Balamurugan; A Petrosky; K Michals; Reuben Matalon
Canavan disease: mutations among Jewish and non-Jewish patients.
American journal of human genetics 1994;55(1):34-41.
1994: R Kaul; K Balamurugan; G P Gao; Reuben Matalon
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.
Genomics 1994;21(2):364-70.
1994: R Kaul; Reuben Matalon; R Allen; Robert O Fisch; K Michals; A Petrosky; D Sullivan
Frequency of 12 mutations in 114 children with phenylketonuria in the Midwest region of the USA.
Journal of inherited metabolic disease 1994;17(3):356-8.
1994: Reuben Matalon; K Michals; Colleen Azen; E Friedman; Richard Koch; Bobbye Rouse; William B Hanley; Felix de la Cruz
Maternal PKU Collaborative Study: pregnancy outcome and postnatal head growth.
Journal of inherited metabolic disease 1994;17(3):353-5.
1994: R Kaul; G P Gao; K Balamurugan; Reuben Matalon
Canavan disease: molecular basis of aspartoacylase deficiency.
Journal of inherited metabolic disease 1994;17(3):295-7.
1993: Richard Koch; Harvey L Levy; Reuben Matalon; Bobbye Rouse; William B Hanley; Colleen Azen
The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993.
American journal of diseases of children (1960) 1993;147(11):1224-30.
1993: R Kaul; G P Gao; K Balamurugan; Reuben Matalon
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
Nature genetics 1993;5(2):118-23.
1993: Richard Koch; E Wenz; Colleen Azen; E G Friedman; H Levy; F Rohr; Bobbye Rouse; L Castiglioni; Reuben Matalon; Kimberlee Michals-Matalon
The effect of nutrient intake on pregnancy outcome in maternal phenylketonuria.
Annals of the New York Academy of Sciences 1993;678():348-9.
1992: L A Gleason; K Michals; Reuben Matalon; Patricia Langenberg; S Kamath
A treatment program for adolescents with phenylketonuria.
Clinical pediatrics 1992;31(6):331-5.
1992: L D Platt; Richard Koch; Colleen Azen; William B Hanley; Harvey L Levy; Reuben Matalon; Bobbye Rouse; Felix de la Cruz; C A Walla
Maternal phenylketonuria collaborative study, obstetric aspects and outcome: the first 6 years.
American journal of obstetrics and gynecology 1992;166(4):1150-60; discussion 1160-2.
1992: Reuben Matalon; K Michals; P Gashkoff; R Kaul
Prenatal diagnosis of Canavan disease.
Journal of inherited metabolic disease 1992;15(3):392-4.
1991: Reuben Matalon; K Michals
Phenylketonuria: screening, treatment and maternal PKU.
Clinical biochemistry 1991;24(4):337-42.
1991: Robert O Fisch; Reuben Matalon; S Weisberg; K Michals
Children of fathers with phenylketonuria: an international survey.
The Journal of pediatrics 1991;118(5):739-41.
1991: R Kaul; J Casanova; A B Johnson; P Tang; Reuben Matalon
Purification, characterization, and localization of aspartoacylase from bovine brain.
Journal of neurochemistry 1991;56(1):129-35.
1991: Colleen Azen; Richard Koch; E G Friedman; S Berlow; J Coldwell; W Krause; Reuben Matalon; E McCabe; M O'Flynn; R Peterson
Intellectual development in 12-year-old children treated for phenylketonuria.
American journal of diseases of children (1960) 1991;145(1):35-9.
1991: Reuben Matalon; K Michals; Colleen Azen; E G Friedman; Richard Koch; E Wenz; H Levy; F Rohr; Bobbye Rouse; L Castiglioni
Maternal PKU collaborative study: the effect of nutrient intake on pregnancy outcome.
Journal of inherited metabolic disease 1991;14(3):371-4.
1990: Reuben Matalon; P Supple; H Wyandt; I M Rosenthal
Transmission of ring 14 chromosome from mother to two sons.
American journal of medical genetics 1990;36(4):381-5.
1990: Richard Koch; William B Hanley; H Levy; Reuben Matalon; Bobbye Rouse; F Dela Cruz; Colleen Azen; E Gross Friedman
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada.
Journal of inherited metabolic disease 1990;13(4):641-50.
1990: Bobbye Rouse; L Lockhart; Reuben Matalon; Colleen Azen; Richard Koch; William B Hanley; H Levy; F dela Cruz; E Friedman
Maternal phenylketonuria pregnancy outcome: a preliminary report of facial dysmorphology and major malformations.
Journal of inherited metabolic disease 1990;13(3):289-91.
1989: Reuben Matalon; K Michals; N Blau; Bobbye Rouse
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin.
Advances in pediatrics 1989;36():67-89.
1989: Reuben Matalon; R Kaul; J Casanova; K Michals; A Johnson; Isabelle Rapin; P Gashkoff; M Deanching
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease.
Journal of inherited metabolic disease 1989;12 Suppl 2():329-31.
1988: P Gashkoff; Reuben Matalon; V Papa; D Sebasta
Analysis of the pentafluorobenzoyl derivative of phenylethylamine utilizing negative ion chemical ionization and gas chromatography/mass spectrometry.
Biomedical & environmental mass spectrometry 1988;16(1-12):327-9.
1988: K Michals; Colleen Azen; P Acosta; Richard Koch; Reuben Matalon
Blood phenylalanine levels and intelligence of 10-year-old children with PKU in the National Collaborative Study.
Journal of the American Dietetic Association 1988;88(10):1226-9.
1988: K Michals; M Lopus; Reuben Matalon
Phenylalanine metabolites as indicators of dietary compliance in children with phenylketonuria.
Biochemical medicine and metabolic biology 1988;39(1):18-23.
1988: Reuben Matalon; K Michals; D Sebesta; M Deanching; P Gashkoff; J Casanova
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
American journal of medical genetics 1988;29(2):463-71.
1988: Reuben Matalon; M Deanching; R Marback; K Michals
Carrier detection for Sanfilippo A syndrome.
Journal of inherited metabolic disease 1988;11(2):158-60.
1985: K Michals; M Dominik; V Schuett; E Brown; Reuben Matalon
Return to diet therapy in patients with phenylketonuria.
The Journal of pediatrics 1985;106(6):933-6.
1984: George Hoganson; S Berlow; S Kaufman; S Milstien; V Schuett; Reuben Matalon; E Naylor; W Seifert
Biopterin synthesis defects: problems in diagnosis.
Pediatrics 1984;74(6):1004-11.