Professor, Pediatrics, University of Texas Medical Branch SOM
Pediatrics
Dr. Reuben Matalon, MD
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Reuben Matalon is an expert in the field of Pediatrics. He went to medical school at The Hebrew University of Jerusalem Hadassah Medical School. Reuben Matalon is a published doctor as well. He has 74 publications published. The latest was: 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 colla...
Publications
- Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.
- Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
- Multiple phenotypes in phosphoglucomutase 1 deficiency.
- A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice.
- Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR...
- Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population.
- DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.
- Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease.
- 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 replacemen...
- Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain.
- Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease.
- Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse.
- 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.
- Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.
- Canavan disease: a monogenic trait with complex genomic interaction.
- Molecular basis of Canavan's disease: from human to mouse.
- Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
- Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.
- Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease.
- 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.
- Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
- Future role of large neutral amino acids in transport of phenylalanine into the brain.
- High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin.
- Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
- Aspartoacylase gene knockout in the mouse: impact on reproduction.
- Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU).
- Large neutral amino acids in the treatment of phenylketonuria (PKU).
- Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine.
- Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
- Novel missense mutation (Y231C) in a turkish patient with canavan disease.
- Biopterin responsive phenylalanine hydroxylase deficiency.
- Canavan disease: studies on the knockout mouse.
- Expression of calpastatin, minopontin, NIPSNAP1, rabaptin-5 and neuronatin in the phenylketonuria (PKU) mouse brain: possible role on cognitive defect seen in PKU.
- Upregulation of aspartoacylase activity in the duodenum of obesity induced diabetes mouse: implications on diabetic neuropathy.
- Abnormal expression of genes associated with development and inflammation in the heart of mouse maternal phenylketonuria offspring.
- Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media.
- Association between cytokine gene polymorphisms and risk for upper respiratory tract infection and acute otitis media.
- Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands.
- Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations.
- Genetic polymorphism (G80A) of reduced folate carrier gene in ethnic populations.
- Maternal Phenylketonuria Collaborative Study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelae.
- Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan''s disease.
- Neuronal localization of the mitochondrial protein NIPSNAP1 in rat nervous system.
- Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease.
- Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
- Prenatal diagnosis of Canavan disease.
- Absence-like and tonic seizures in aspartoacylase/attractin double-mutant mice.
- Response of phenylketonuria to tetrahydrobiopterin.
- Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
- Trends in enzyme therapy for phenylketonuria.
- Physiological role of N-acetylaspartate: contribution to myelinogenesis.
- Canavan disease: diagnosis and molecular analysis.
- Canavan disease prenatal diagnosis and genetic counseling.
- When should children be tested for genetic diseases?
- Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome.
- A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.
- First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies.
- Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome.
- Molecular basis of Canavan disease.
- Biochemistry and molecular biology of Canavan disease.
- Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.
- Recent advances in Canavan disease.
- Fragile X syndrome in two siblings with major congenital malformations.
- Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.
- 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 colla...
- Transmission of ring 14 chromosome from mother to two sons.
- Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.
- Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.
- Dominant inheritance of a syndrome similar to Rubinstein-Taybi.
- A therapeutic trial of amniotic epithelial cell implantation in patients with lysosomal storage diseases.
- Prenatal diagnosis for Canavan disease: the use of DNA markers.
- Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
- Polymorphisms of immunity genes and susceptibility to otitis media in children.
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
Accepted Insurances
Education
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University of Chicago -
The Hebrew University of Jerusalem Hadassah Medical School
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