Richard Koch

Summary

Country: USA

Publications

  1. ncbi request reprint Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults
    Rex A Moats
    Department of Radiology, University of California Keck School of Medicine at Childrens Hospital Los Angeles, Los Angeles, California 90027, USA
    Pediatrics 112:1575-9. 2003
  2. ncbi request reprint Maternal phenylketonuria: an international study
    R Koch
    Children s Hospital of Los Angeles, University of Southern California Los Angeles, California 90027, USA
    Mol Genet Metab 71:233-9. 2000
  3. ncbi request reprint Tetrahydrobiopterin and maternal PKU
    Richard Koch
    Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
    Mol Genet Metab 86:S139-41. 2005
  4. pmc Maternal phenylketonuria: the importance of early control during pregnancy
    R Koch
    Maternal PKU Collaborative Study, Los Angeles, California, USA
    Arch Dis Child 90:114-5. 2005
  5. ncbi request reprint The Maternal Phenylketonuria International Study: 1984-2002
    Richard Koch
    Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USA
    Pediatrics 112:1523-9. 2003
  6. ncbi request reprint Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study
    Richard Koch
    Childrens Hospital Los Angeles, Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California 90027, USA
    Pediatrics 112:1519-22. 2003
  7. ncbi request reprint Blood-brain phenylalanine relationships in persons with phenylketonuria
    R Koch
    Department of Pediatrics and Radiology, Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USA
    Pediatrics 106:1093-6. 2000
  8. ncbi request reprint Mental illness in mild PKU responds to biopterin
    Richard Koch
    Childrens Hospital of Los Angeles, USC School of Medicine, Los Angeles, California, USA
    Mol Genet Metab 75:284-6. 2002
  9. doi request reprint Psychosocial issues and outcomes in maternal PKU
    Richard Koch
    University of Southern California Keck School of Medicine, Department of Pediatrics, Genetics Division, 2125 Ames St, Los Angeles, CA 90027, USA
    Mol Genet Metab 99:S68-74. 2010
  10. ncbi request reprint Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin
    Lin Wang
    Department of Molecular Biology, The Scripps Research Institute, La Jolla, California, USA
    Genet Test 11:174-8. 2007

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Brain phenylalanine concentrations in phenylketonuria: research and treatment of adults
    Rex A Moats
    Department of Radiology, University of California Keck School of Medicine at Childrens Hospital Los Angeles, Los Angeles, California 90027, USA
    Pediatrics 112:1575-9. 2003
    ..To assess the effects of 2 pharmacologic interventions (amino acid supplements) on the brain levels of phenylalanine (Phe) in adults with phenylketonuria (PKU)...
  2. ncbi request reprint Maternal phenylketonuria: an international study
    R Koch
    Children s Hospital of Los Angeles, University of Southern California Los Angeles, California 90027, USA
    Mol Genet Metab 71:233-9. 2000
    ..It appears that continued adherence to the diet, resulting in normal maternal intelligence, is an important contribution to improved fetal development...
  3. ncbi request reprint Tetrahydrobiopterin and maternal PKU
    Richard Koch
    Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
    Mol Genet Metab 86:S139-41. 2005
    ..The lack of nausea and vomiting during the first trimester suggests that the occurrence of CHD in babies born to women with PKU may be reduced with BH4...
  4. pmc Maternal phenylketonuria: the importance of early control during pregnancy
    R Koch
    Maternal PKU Collaborative Study, Los Angeles, California, USA
    Arch Dis Child 90:114-5. 2005
  5. ncbi request reprint The Maternal Phenylketonuria International Study: 1984-2002
    Richard Koch
    Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USA
    Pediatrics 112:1523-9. 2003
    ....
  6. ncbi request reprint Research design, organization, and sample characteristics of the Maternal PKU Collaborative Study
    Richard Koch
    Childrens Hospital Los Angeles, Division of Medical Genetics, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California 90027, USA
    Pediatrics 112:1519-22. 2003
    ..A contract was awarded to Childrens Hospital Los Angeles as the Coordinating Center to provide implementation of the research protocol, data collection, and analysis...
  7. ncbi request reprint Blood-brain phenylalanine relationships in persons with phenylketonuria
    R Koch
    Department of Pediatrics and Radiology, Childrens Hospital of Los Angeles and the University of Southern California School of Medicine, Los Angeles, California 90027, USA
    Pediatrics 106:1093-6. 2000
    ....
  8. ncbi request reprint Mental illness in mild PKU responds to biopterin
    Richard Koch
    Childrens Hospital of Los Angeles, USC School of Medicine, Los Angeles, California, USA
    Mol Genet Metab 75:284-6. 2002
    ..A maintenance dosage of only 100 mg/day has resulted in significant improvement of depression and panic attacks, with discontinuation of psychotropic medication...
  9. doi request reprint Psychosocial issues and outcomes in maternal PKU
    Richard Koch
    University of Southern California Keck School of Medicine, Department of Pediatrics, Genetics Division, 2125 Ames St, Los Angeles, CA 90027, USA
    Mol Genet Metab 99:S68-74. 2010
    ..Treatments such as sapropterin may also have a role in improving metabolic control during pregnancy...
  10. ncbi request reprint Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin
    Lin Wang
    Department of Molecular Biology, The Scripps Research Institute, La Jolla, California, USA
    Genet Test 11:174-8. 2007
    ..The level of blood Phe decreased after BH4 treatment in all of the patients. These studies suggest that mutations in the regulatory domain also responded to BH4 even if the patient had classical PKU...
  11. doi request reprint Neuropathology of a 4-month-old infant born to a woman with phenylketonuria
    Richard Koch
    Department of Genetics, Children s Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA
    Dev Med Child Neurol 50:230-3. 2008
    ..Congenital heart disease complicated the case. Abnormalities in developmental white matter may account for neurological abnormalities in infants with MPKU...
  12. ncbi request reprint Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment
    Richard Koch
    Division of Medical Genetics and Radiology Department, MS 90, Childrens Hospital of Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA
    Mol Genet Metab 79:110-3. 2003
    ..Two subjects were diagnosed with clinical depression and were in counseling programs at initiation of the study. At the end of the study all patients reported increased energy and overall improvement in well-being...
  13. ncbi request reprint Pitfalls in newborn screening
    Eric Crombez
    Mattel Children s Hospital, California, USA
    J Pediatr 147:119-20. 2005
  14. ncbi request reprint Response of patients with phenylketonuria in the US to tetrahydrobiopterin
    Reuben Matalon
    Department Pediatrics, University of Texas Medical Branch, Galveston TX, USA
    Mol Genet Metab 86:S17-21. 2005
    ..It is more likely that mutations with residual activity should respond to BH4, therefore the clinical definition of "Classical PKU" should be reconciled with the residual activity of PAH mutations...
  15. ncbi request reprint Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome
    Flemming Guttler
    Department of Inherited Metabolic Disease and Molecular Genetics, The John F Kennedy Institute, Glostrup, Denmark
    Pediatrics 112:1530-3. 2003
    ....
  16. ncbi request reprint Pregnancy experiences in the woman with mild hyperphenylalaninemia
    Harvey L Levy
    Division of Genetics, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Pediatrics 112:1548-52. 2003
    ..A major issue in maternal phenylketonuria (MPKU) has been whether maternal non-PKU mild hyperphenylalaninemia (MHP) is teratogenic. Such untreated pregnancies and their outcomes are presented on this report...
  17. ncbi request reprint Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles
    Steven F Dobrowolski
    Idaho Technology, 390 Wakara Way, Salt Lake City, UT 84108, USA
    Mol Genet Metab 91:218-27. 2007
    ..Two mutations were identified in 93 of the 95 patients assessed and in the remaining two patients a single mutation was identified. Melt profiling provided 99% sensitivity to identify sequence variants in the PAH gene...
  18. ncbi request reprint Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complex
    Lisbeth Birk Møller
    Kennedy Institute, Glostrup, Denmark
    Mol Genet Metab 86:S119-23. 2005
    ..Our data suggest that individual vulnerability to Phe in patients with PKU is not due to structural variants in the 4F2hc/LAT1 complex...
  19. ncbi request reprint Biopterin responsive phenylalanine hydroxylase deficiency
    Reuben Matalon
    Department of Pediatrics and Microbiology, University of Texas Medical Branch, Galveston, Texas 77555, USA
    Genet Med 6:27-32. 2004
    ..A pilot study was undertaken to examine the response to 6-R-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4) in patients with atypical and classical PKU...
  20. pmc Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations
    Heidi Erlandsen
    Department of Molecular Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 101:16903-8. 2004
    ..Of fundamental importance is the observation that BH4 appears to increase Phe catabolism if at least one of the two heterozygous mutations has any residual activity remaining...
  21. ncbi request reprint The medical theory of Richard Koch II: natural philosophy and history
    F Topfer
    Chair of Ethics in Medicine, University of Tubingen, Schleichstrasse 8, 72076, Tubingen, Germany
    Med Health Care Philos 8:323-34. 2005
    b>Richard Koch(1) became known in the 1920s with works on basic medical theory. Among these publications, the character of medical action and its status within the theory of science was presented as the most important theme...
  22. ncbi request reprint The medical theory of Richard Koch I: theory of science and ethics
    F Topfer
    Chair of Ethics in Medicine, University of Tubingen, Schleichstrasse 8, 72074, Tubingen, Germany
    Med Health Care Philos 8:207-19. 2005
    b>Richard Koch first made his appearance in the 1920s with works published on the foundations of medicine. These publications describe the character of medicine as an action and the status of medicine within the theory of science...
  23. ncbi request reprint [Richard Koch's life in national socialism and in Soviet emigration]
    Daniela Boltres
    Medizinhist J 41:157-86. 2006
    The Jewish historian and theorist of medicine, Richard Koch, teaching in Frankfurt/Main, fled in 1936 from National Socialist Germany to the USSR where he lived in the Caucasian spa Essentuki until his death in 1949...