- Brain phenylalanine concentrations in phenylketonuria: research and treatment of adultsRex 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)...
- Maternal phenylketonuria: an international studyR 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...
- Tetrahydrobiopterin and maternal PKURichard 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...
- Maternal phenylketonuria: the importance of early control during pregnancyR Koch
Maternal PKU Collaborative Study, Los Angeles, California, USA
Arch Dis Child 90:114-5. 2005
- The Maternal Phenylketonuria International Study: 1984-2002Richard 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....
- Research design, organization, and sample characteristics of the Maternal PKU Collaborative StudyRichard 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...
- Blood-brain phenylalanine relationships in persons with phenylketonuriaR 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....
- Mental illness in mild PKU responds to biopterinRichard 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...
- Psychosocial issues and outcomes in maternal PKURichard 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...
- Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterinLin 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...
- Neuropathology of a 4-month-old infant born to a woman with phenylketonuriaRichard 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...
- Large neutral amino acid therapy and phenylketonuria: a promising approach to treatmentRichard 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...
- Pitfalls in newborn screeningEric Crombez
Mattel Children s Hospital, California, USA
J Pediatr 147:119-20. 2005
- Response of patients with phenylketonuria in the US to tetrahydrobiopterinReuben 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...
- Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcomeFlemming Guttler
Department of Inherited Metabolic Disease and Molecular Genetics, The John F Kennedy Institute, Glostrup, Denmark
Pediatrics 112:1530-3. 2003....
- Pregnancy experiences in the woman with mild hyperphenylalaninemiaHarvey 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...
- 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 profilesSteven 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...
- Inter-individual variation in brain phenylalanine concentration in patients with PKU is not caused by genetic variation in the 4F2hc/LAT1 complexLisbeth 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...
- Biopterin responsive phenylalanine hydroxylase deficiencyReuben 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...
- Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutationsHeidi 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...
- The medical theory of Richard Koch II: natural philosophy and historyF Topfer
Chair of Ethics in Medicine, University of Tubingen, Schleichstrasse 8, 72076, Tubingen, Germany
Med Health Care Philos 8:323-34. 2005b>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...
- The medical theory of Richard Koch I: theory of science and ethicsF Topfer
Chair of Ethics in Medicine, University of Tubingen, Schleichstrasse 8, 72074, Tubingen, Germany
Med Health Care Philos 8:207-19. 2005b>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...
- [Richard Koch's life in national socialism and in Soviet emigration]Daniela Boltres
Medizinhist J 41:157-86. 2006The 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...