References
- American Academy of Pediatrics. Committee on Genetics. Medical Genetics in Pediatric Practice. American Academy of Pediatrics; 2013
- US Department of Health and Human Services, Health Resource Services Administration. Advisory Committee on heritable disorders in newborns and children. Accessed May 23, 2022. http://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
- American College of Medical Genetics. Newborn screening ACT sheets and algorithms. Accessed May 23, 2022. https://www.ncbi.nlm.nih.gov/books/NBK55827
- American Academy of Pediatrics Newborn Screening Authoring Committee. Newborn screening expands: recommendations for pediatricians and medical homes-implications for the system. Pediatrics. 2008;121(1):192-217 PMID: 18166575 doi: 10.1542/peds.2007-3021
- Saudubray JM, Baumgartner MR, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016 doi: 10.1007/978-3-662-49771-5
- Bajaj L, Berman S. Berman's Pediatric Decision Making. 5th ed. Elsevier/Mosby; 2011
- Mofidi S, Kronn D. Emergency management of inherited metabolic disorders. Top Clin Nutr. 2009;24(4):374-384 doi: 10.1097/TIN.0b013e3181c622c5
- Wilson K, Charmchi P, Dworetzky B. State Statutes and Regulations on Dietary Treatment of Disorders Identified through Newborn Screening. Center for Advancing Health Policy and Practice, Boston University School of Public Health; 2016
- National PKU. Alliance. State coverage. Accessed June 01, 2022. https://www.npkua.org/Take-Action/State-Coverage
- Patients & providers for medical nutrition equity. Accessed January 02, 2023. https://nutritionequity.org
- Berry SA, Brown CS, Greene C, Camp KM, McDonough S, Bocchini JA Jr; Follow-up and Treatment (FUTR) Workgroup for the Advisory Committee on Heritable Disorders in Newborns and Children. Medical foods for inborn errors of metabolism: history, current status, and critical need. Pediatrics. 2020;145(3):e20192261 PMID: 32034080 doi: 10.1542/peds.2019-2261
- Levy H, Burton B, Cederbaum S, Scriver C. Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH(4)) in phenylketonuria and its use in treatment. Mol Genet Metab. 2007;92(4):287-291 PMID: 18036498 doi: 10.1016/j.ymgme.2007.09.017
- Sparks SE, Krasnewich D. Congenital disorders of n-linked glycosylation and multiple pathway overview. GeneReviews. Updated January, 2017 Accessed May 23, 2022. https://www.ncbi.nlm.nih.gov/books/NBK1332
- Ross KM, Brown LM, Corrado MM, et al. Safety and efficacy of chronic extended release cornstarch therapy for glycogen storage disease type I. JIMD Rep. 2016;26:85-90 PMID: 26303612 doi: 10.1007/8904_2015_488
- Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab. 2006;89(1-2):58-63 PMID: 16876451 doi: 10.1016/j.ymgme.2006.06.004
- Vockley J, Burton B, Berry G, et al. Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: results from an open-label, long-term extension study. J Inherit Metab Dis. 2021;44(1):253-263 PMID: 32885845 doi: 10.1002/jimd.12313
- Holme E, Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis. 2000;4(4):805-814 PMID: 11232358 doi: 10.1016/S1089-3261(05)70142-2
- Oishi K, Arnon R, Wasserstein MP, Diaz GA. Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, and perioperative management. Pediatr Transplant. 2016;20(6):756-769 PMID: 27329540 doi: 10.1111/petr.12741
- Meyburg J, Das AM, Hoerster F, et al. One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects. Transplantation. 2009;87(5):636-641 PMID: 19295306 doi: 10.1097/TP.0b013e318199936a
- Baruteau J, Waddington SN, Alexander IE, Gissen P. Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects. J Inherit Metab Dis. 2017;40(4):497-517 PMID: 28567541 doi: 10.1007/s10545-017-0053-3
- Kuo CY, Kohn DB. Gene therapy for the treatment of primary immune deficiencies. Curr Allergy Asthma Rep.2016;16(5):39 PMID: 27056559 doi: 10.1007/s11882-016-0615-8
- Jacobson SG, Cideciyan AV, Ratnakaram R, et al. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012;130(1):9-24 PMID: 21911650 doi: 10.1001/archophthalmol.2011.298
- Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science. 2009;326(5954):818-823 PMID: 19892975 doi: 10.1126/science.1171242
- Camp KM, Parisi MA, Acosta PB, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014;112(2):87-122 PMID: 24667081 doi: 10.1016/j.ymgme.2014.02.013
- Vockley J, Andersson HC, Antshel KM, et al; American College of Medical Genetics and Genomics Therapeutics Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2): 188-200 PMID: 24385074 doi: 10.1038/gim.2013.157
- Singh RH, Rohr F, Frazier D, et al. Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med. 2014;16(2): 121-131 PMID: 24385075 doi: 10.1038/gim.2013.179