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Volumn 109, Issue 4, 2013, Pages 319-328

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

(20)  Camp, Kathryn M a   Lloyd Puryear, Michele A a   Yao, Lynne b   Groft, Stephen C c   Parisi, Melissa A d   Mulberg, Andrew b   Gopal Srivastava, Rashmi c   Cederbaum, Stephen e   Enns, Gregory M f   Ershow, Abby G g   Frazier, Dianne M h   Gohagan, John a   Harding, Cary i   Howell, R Rodney j   Regan, Karen a   Stacpoole, Peter W k   Venditti, Charles l   Vockley, Jerry m   Watson, Michael n   Coates, Paul M a  


Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BIOLOGICAL PRODUCT; CARBOHYDRATE; CARGLUMIC ACID; ENZYME; FAT; MINERAL; PHENYLALANINE 4 MONOOXYGENASE; PHENYLALANINE AMMONIA LYASE; PROTEIN; SAPROPTERIN; VITAMIN;

EID: 84880811177     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.05.008     Document Type: Conference Paper
Times cited : (20)

References (60)
  • 1
    • 84866179926 scopus 로고    scopus 로고
    • Nutritional treatment for inborn errors of metabolism: Indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example
    • Camp K., Lloyd-Puryear M.A., Huntington K. Nutritional treatment for inborn errors of metabolism: Indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol. Genet. Metab. 2012, 107:3-9.
    • (2012) Mol. Genet. Metab. , vol.107 , pp. 3-9
    • Camp, K.1    Lloyd-Puryear, M.A.2    Huntington, K.3
  • 2
    • 0014448147 scopus 로고
    • Two years of PKU testing in California: the role of the laboratory
    • Cunningham G.C. Two years of PKU testing in California: the role of the laboratory. Calif. Med. 1969, 110:11-16.
    • (1969) Calif. Med. , vol.110 , pp. 11-16
    • Cunningham, G.C.1
  • 3
    • 84880847652 scopus 로고
    • OTA-H-345, U.S. Government Printing Office, Washington, DC, U.S.Congress, Office of Technology Assessment
    • U.S.Congress, Office of Technology Assessment Healthy Children: Investing in the Future 1988, OTA-H-345, U.S. Government Printing Office, Washington, DC.
    • (1988) Healthy Children: Investing in the Future
  • 4
    • 33846082765 scopus 로고    scopus 로고
    • American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system-executive summary
    • Watson M.S., Mann M.Y., Lloyd-Puryear M., Rinaldo P., Howell R.R. American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics 2006, 117:5296-5307.
    • (2006) Pediatrics , vol.117 , pp. 5296-5307
    • Watson, M.S.1    Mann, M.Y.2    Lloyd-Puryear, M.3    Rinaldo, P.4    Howell, R.R.5
  • 5
    • 84880776278 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013)
    • Baby's First Test Available At:, (Accessed March 26, 2013). http://www.babysfirsttest.org/.
    • Baby's First Test
  • 6
    • 72249119031 scopus 로고    scopus 로고
    • Psychosocial aspects of PKU: hidden disabilities-a review
    • Gentile J.K., Ten Hoedt A.E., Bosch A.M. Psychosocial aspects of PKU: hidden disabilities-a review. Mol. Genet. Metab. 2010, 99(Suppl. 1):S64-S67.
    • (2010) Mol. Genet. Metab. , vol.99 , Issue.SUPPL. 1
    • Gentile, J.K.1    Ten Hoedt, A.E.2    Bosch, A.M.3
  • 7
    • 84871715267 scopus 로고    scopus 로고
    • A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics
    • Burton B.K., et al. A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Mol. Genet. Metab. 2013, 108:8-12.
    • (2013) Mol. Genet. Metab. , vol.108 , pp. 8-12
    • Burton, B.K.1
  • 8
    • 84880769627 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013)
    • Public Law 97-414 Available At:, (Accessed March 26, 2013). http://history.nih.gov/research/downloads/PL97-414.pdf.
    • Public Law 97-414
  • 9
    • 13144272331 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Orphan Drug Act Available At:, (Accessed March 26, 2013). http://www.fda.gov/RegulatoryInformation/Legislation/FederalFoodDrugandCosmeticActFDCAct/SignificantAmendmentstotheFDCAct/OrphanDrugAct/default.htm.
    • Orphan Drug Act
  • 10
    • 84880849192 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), National Institutes of Health Office of Rare Diseases Research
    • National Institutes of Health Office of Rare Diseases Research Rare diseases information Available At:, (Accessed March 26, 2013). http://rarediseases.info.nih.gov/Resources/Rare_Diseases_Information.aspx.
    • Rare diseases information
  • 11
    • 84880828140 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), National Institutes of Health Office of Rare Diseases Research
    • National Institutes of Health Office of Rare Diseases Research Rare Diseases Information Center (GARD) Available At:, (Accessed March 26, 2013). http://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4.
    • Rare Diseases Information Center (GARD)
  • 12
    • 84856779629 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Guidance for industry: frequently asked questions about medical foods Available At:, (Accessed March 26, 2013). http://www.fda.gov/Food/GuidanceRegulation/GuidanceDocumentsRegulatoryInformation/MedicalFoods/ucm054048.htm.
    • Guidance for industry: frequently asked questions about medical foods
  • 13
    • 84880788161 scopus 로고    scopus 로고
    • Available At:, (Accessed March 14, 2013), National Institutes of Health National Center for Advancing Translational Sciences
    • National Institutes of Health, National Center for Advancing Translational Sciences Available At:, (Accessed March 14, 2013). http://www.ncats.nih.gov/research/cts/ctsa/ctsa.html.
  • 14
    • 84880835458 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Government Printing Office
    • U.S.Government Printing Office Public Law 107-280-Rare Diseases Act of 2002 Available At:, (Accessed March 26, 2013). http://www.gpo.gov/fdsys/pkg/PLAW-107publ280/content-detail.html.
    • Public Law 107-280-Rare Diseases Act of 2002
  • 15
    • 84880764725 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), Rare diseases clinical research network (RDCRN)
    • Rare diseases clinical research network (RDCRN) Available At:, (Accessed March 26, 2013). http://rarediseases.info.nih.gov/ASP/resources/extr_res.asp.
  • 16
    • 84880769897 scopus 로고    scopus 로고
    • (Accessed March 26, 2013), Newborn screening translational research network (NBSTRN)
    • Newborn screening translational research network (NBSTRN) (Accessed March 26, 2013). https://www.nbstrn.org/.
  • 17
    • 84880799818 scopus 로고    scopus 로고
    • (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration (Accessed March 26, 2013). http://www.fda.gov/aboutfda/whatwedo/default.htm.
  • 20
    • 77956435501 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Dietary supplements Available At:, (Accessed March 26, 2013). http://www.fda.gov/food/dietarysupplements/default.htm.
    • Dietary supplements
  • 21
    • 0042557758 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Federal Food, Drug, and Cosmetic Act (FD&C Act) Available At:, (Accessed March 26, 2013). http://www.fda.gov/regulatoryinformation/legislation/federalfooddrugandcosmeticactfdcact/default.htm.
    • Federal Food, Drug, and Cosmetic Act (FD&C Act)
  • 22
    • 84880844901 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), National Institutes of Health.Office of Dietary Supplements
    • National Institutes of Health.Office of Dietary Supplements Dietary supplements: what you need to know Available At:, (Accessed March 26, 2013). http://ods.od.nih.gov/HealthInformation/DS_WhatYouNeedToKnow.aspx.
    • Dietary supplements: what you need to know
  • 23
    • 84862812683 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Inspections, compliance, enforcement, and criminal investigations Available At:, (Accessed March 26, 2013). http://www.fda.gov/ICECI/Inspections/InspectionGuides/ucm074948.htm.
    • Inspections, compliance, enforcement, and criminal investigations
  • 25
    • 77649234756 scopus 로고    scopus 로고
    • How to improve R&D productivity: the pharmaceutical industry's grand challenge
    • Paul S.M., et al. How to improve R&D productivity: the pharmaceutical industry's grand challenge. Nat. Rev. Drug Discov. 2010, 9:203-214.
    • (2010) Nat. Rev. Drug Discov. , vol.9 , pp. 203-214
    • Paul, S.M.1
  • 26
    • 84880789619 scopus 로고    scopus 로고
    • (Accessed March 26, 2013)
    • (Accessed March 26, 2013). http://www.accessdata.fda.gov/scripts/cder/drugsatfda/index.cfm?fuseaction=Reports.ReportsMenu.
  • 27
    • 84864628576 scopus 로고    scopus 로고
    • Characteristics of rare disease marketing applications associated with FDA product approvals 2006-2010
    • Pariser A.R., Slack D.J., Bauer L.J., Warner C.A., Tracy L.A. Characteristics of rare disease marketing applications associated with FDA product approvals 2006-2010. Drug Discov. Today 2012, 17:898-904.
    • (2012) Drug Discov. Today , vol.17 , pp. 898-904
    • Pariser, A.R.1    Slack, D.J.2    Bauer, L.J.3    Warner, C.A.4    Tracy, L.A.5
  • 29
    • 84864118282 scopus 로고    scopus 로고
    • Quantum of effectiveness evidence in FDA's approval of orphan drugs cataloguing FDA's flexibility in regulating therapies for persons with rare disorders
    • Sasinowski F.J. Quantum of effectiveness evidence in FDA's approval of orphan drugs cataloguing FDA's flexibility in regulating therapies for persons with rare disorders. Drug Inf. J. 2012, 46:238-263.
    • (2012) Drug Inf. J. , vol.46 , pp. 238-263
    • Sasinowski, F.J.1
  • 31
    • 42149178487 scopus 로고    scopus 로고
    • Standards of professional practice for genetic metabolic dietitians
    • Singh R.H., Kaczmarczyk M.M. Standards of professional practice for genetic metabolic dietitians. Genet. Med. 2008, 10:290-293.
    • (2008) Genet. Med. , vol.10 , pp. 290-293
    • Singh, R.H.1    Kaczmarczyk, M.M.2
  • 32
    • 69749101508 scopus 로고    scopus 로고
    • Advanced practitioners and what they do that is different, roles in genetics
    • Camp K., Rohr F.J. Advanced practitioners and what they do that is different, roles in genetics. Top. Clin. Nutr. 2009, 23:219-230.
    • (2009) Top. Clin. Nutr. , vol.23 , pp. 219-230
    • Camp, K.1    Rohr, F.J.2
  • 33
    • 84871854142 scopus 로고    scopus 로고
    • About half of the states are implementing patient-centered medical homes for their Medicaid populations
    • Takach M. About half of the states are implementing patient-centered medical homes for their Medicaid populations. Heal. Aff. 2012, 31:2432-2440.
    • (2012) Heal. Aff. , vol.31 , pp. 2432-2440
    • Takach, M.1
  • 34
    • 84870888271 scopus 로고    scopus 로고
    • The patient-centered medical home
    • Henderson S., Princell C.O., Martin S.D. The patient-centered medical home. AJN 2012, 112:54-59.
    • (2012) AJN , vol.112 , pp. 54-59
    • Henderson, S.1    Princell, C.O.2    Martin, S.D.3
  • 35
    • 84874492644 scopus 로고    scopus 로고
    • Available At:, (Accessed May 8, 2013), European Commission
    • European Commission International Rare Diseases Research Consortium Available At:, (Accessed May 8, 2013). http://ec.europa.eu/research/health/medical-research/rare-diseases/irdirc_en.html.
    • International Rare Diseases Research Consortium
  • 37
    • 84865687859 scopus 로고    scopus 로고
    • Cross-sector sponsorship of research in eosinophilic esophagitis: a collaborative model for rational drug development in rare diseases
    • Fiorentino R., Liu G., Pariser A.R., Mulberg A.E. Cross-sector sponsorship of research in eosinophilic esophagitis: a collaborative model for rational drug development in rare diseases. J. Allergy Clin. Immunol. 2012, 130:613-616.
    • (2012) J. Allergy Clin. Immunol. , vol.130 , pp. 613-616
    • Fiorentino, R.1    Liu, G.2    Pariser, A.R.3    Mulberg, A.E.4
  • 38
    • 84880763922 scopus 로고    scopus 로고
    • National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives, Available At:, (Accessed March 26, 2013)
    • National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives, Available At:, (Accessed March 26, 2013). http://www.nccrcg.org/AM/Template.cfm?Section=Home5.
  • 39
    • 57649109461 scopus 로고    scopus 로고
    • Clinical research for rare disease: opportunities, challenges, and solutions
    • Griggs R.C., et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol. Genet. Metab. 2009, 96:20-26.
    • (2009) Mol. Genet. Metab. , vol.96 , pp. 20-26
    • Griggs, R.C.1
  • 42
    • 84880835305 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration CFR-Code of Federal Regulations, Title 21. 21 CFR 314 & 601 Available At:, (Accessed March 26, 2013). http://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfcfr/cfrsearch.cfm?cfrpart=314.
    • CFR-Code of Federal Regulations, Title 21. 21 CFR 314 & 601
  • 43
    • 84880850398 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Available At:, (Accessed March 26, 2013). http://www.fda.gov.
  • 44
    • 77949418691 scopus 로고    scopus 로고
    • Local Institutional Review Board review of a multicenter trial: local costs without local context
    • Ravina B., et al. Local Institutional Review Board review of a multicenter trial: local costs without local context. Ann. Neurol. 2010, 67:258-260.
    • (2010) Ann. Neurol. , vol.67 , pp. 258-260
    • Ravina, B.1
  • 45
    • 84880814589 scopus 로고    scopus 로고
    • Grinding to a halt: the effects of the increasing regulatory burden on research and quality improvement efforts
    • Infectious Disease Society of America
    • Infectious Disease Society of America Grinding to a halt: the effects of the increasing regulatory burden on research and quality improvement efforts. Clin. Infect. Dis. 2009, 258-260.
    • (2009) Clin. Infect. Dis. , pp. 258-260
  • 46
    • 33745662181 scopus 로고    scopus 로고
    • A review finds that multicenter studies face substantial challenges but strategies exist to achieve Institutional Review Board approval
    • Greene S., Geiger A.M. A review finds that multicenter studies face substantial challenges but strategies exist to achieve Institutional Review Board approval. J. Clin. Epidemiol. 2006, 59:784-790.
    • (2006) J. Clin. Epidemiol. , vol.59 , pp. 784-790
    • Greene, S.1    Geiger, A.M.2
  • 47
    • 77954701958 scopus 로고    scopus 로고
    • Changes in the Institutional Review Board submission process for multicenter research over 6years
    • Pogorselska M., et al. Changes in the Institutional Review Board submission process for multicenter research over 6years. Nurs. Outlook 2010, 58:181-187.
    • (2010) Nurs. Outlook , vol.58 , pp. 181-187
    • Pogorselska, M.1
  • 48
    • 84862300688 scopus 로고    scopus 로고
    • Approaches to facilitate Institutional Review Board approval of multicenter research studies
    • Marsolo K. Approaches to facilitate Institutional Review Board approval of multicenter research studies. Med. Care 2012, 50:S77-S81.
    • (2012) Med. Care , vol.50
    • Marsolo, K.1
  • 50
    • 23744461635 scopus 로고    scopus 로고
    • The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists
    • Cooksey J.A., et al. The state of the medical geneticist workforce: findings of the 2003 survey of American Board of Medical Genetics certified geneticists. GIM 2006, 7:439-443.
    • (2006) GIM , vol.7 , pp. 439-443
    • Cooksey, J.A.1
  • 51
    • 70349311687 scopus 로고    scopus 로고
    • Graduate medical education, 2008-2009
    • Brotherton S.E., Etzel S.I. Graduate medical education, 2008-2009. JAMA 2009, 302(12):1357-1372.
    • (2009) JAMA , vol.302 , Issue.12 , pp. 1357-1372
    • Brotherton, S.E.1    Etzel, S.I.2
  • 53
    • 84880801752 scopus 로고    scopus 로고
    • ACMD personal, communication, March 14
    • Michael Watson, ACMD personal, communication, March 14 2013.
    • (2013)
    • Michael Watson1
  • 54
    • 78649406222 scopus 로고    scopus 로고
    • Available At:, (Accessed May 8, 2013), American Dietetic Association
    • American Dietetic Association Compensation and benefits survey of the dietetics profession Available At:, (Accessed May 8, 2013). https://www.eatright.org/Shop/Product.aspx?id=6442469548.
    • Compensation and benefits survey of the dietetics profession
  • 56
    • 84875779921 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), U.S.Food and Drug Administration
    • U.S.Food and Drug Administration Advancing regulatory science Available At:, (Accessed March 26, 2013). http://www.fda.gov/scienceresearch/specialtopics/regulatoryscience/default.htm.
    • Advancing regulatory science
  • 57
    • 79951595738 scopus 로고    scopus 로고
    • Building a stronger foundation for a new century of treatments and cures
    • Sebelius K. Building a stronger foundation for a new century of treatments and cures. Heal. Aff. 2011, 30:81-83.
    • (2011) Heal. Aff. , vol.30 , pp. 81-83
    • Sebelius, K.1
  • 58
    • 84880770359 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013), National Institutes of Health
    • National Institutes of Health Grants and funding Available At:, (Accessed March 26, 2013). http://grants.nih.gov/grants/funding/submissionschedule.htm.
    • Grants and funding
  • 59
    • 84880843042 scopus 로고    scopus 로고
    • Available At:, (Accessed March 26, 2013)
    • Newborn screening in the genomic era: setting a research agenda Available At:, (Accessed March 26, 2013). https://www.genome.gov/Pages/PolicyEthics/StaffArticles/Newborn_Screening_Meeting_Summary.pdf.
    • Newborn screening in the genomic era: setting a research agenda
  • 60
    • 66249136027 scopus 로고    scopus 로고
    • Mapping gene associations in human mitochondria using clinical disease phenotypes
    • Scharfe C., et al. Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput. Biol. 2009, 5:e1000374.
    • (2009) PLoS Comput. Biol. , vol.5
    • Scharfe, C.1


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