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Forny P, Hörster F, Ballhausen D, et al. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021;44(3):566-592doi: 10.1002/jimd.12370.
Forny, P., Hörster, F., Ballhausen, D., Chakrapani, A., Chapman, K. A., Dionisi-Vici, C., Dixon, M., Grünert, S. C., Grunewald, S., Haliloglu, G., Hochuli, M., Honzik, T., Karall, D., Martinelli, D., Molema, F., Sass, J. O., Scholl-Bürgi, S., Tal, G., Williams, M., Huemer, M., & Baumgartner, M. R. (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of inherited metabolic disease, 44(3), 566-592. https://doi.org/10.1002/jimd.12370
Forny, Patrick, et al. "Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision." Journal of inherited metabolic disease vol. 44,3 (2021): 566-592. doi: https://doi.org/10.1002/jimd.12370
Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 09. PMID: 33595124; PMCID: PMC8252715.
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J Inherit Metab Dis. 2021 May;44(3):566-592. doi: 10.1002/jimd.12370. Epub 2021 Mar 09.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Journal of inherited metabolic disease

Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C Grünert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl-Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R Baumgartner

Affiliations

  1. Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  2. Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  3. Paediatric Unit for Metabolic Diseases, Department of Woman-Mother-Child, University Hospital Lausanne, Lausanne, Switzerland.
  4. Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
  5. Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.
  6. Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
  7. Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  8. Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  9. Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  10. Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
  11. Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  12. Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  13. Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  14. Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany.
  15. Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
  16. Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.

PMID: 33595124 PMCID: PMC8252715 DOI: 10.1002/jimd.12370

Abstract

Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re-evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well-informed decisions in the context of MMA and PA patient care.

© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

Keywords: diagnosis and management; guidelines; inherited metabolic disease; methylmalonic acidaemia; propionic acidaemia

References

  1. Mol Genet Metab. 2006 Jun;88(2):123-30 - PubMed
  2. J Inherit Metab Dis. 2004;27(1):111-2 - PubMed
  3. Sci Rep. 2019 Aug 26;9(1):12366 - PubMed
  4. Mol Genet Metab. 2012 Jan;105(1):16-25 - PubMed
  5. Mol Genet Metab. 2013 Jan;108(1):25-9 - PubMed
  6. Pediatr Transplant. 2016 Dec;20(8):1081-1086 - PubMed
  7. J Inherit Metab Dis. 1993;16(6):1052-3 - PubMed
  8. Mol Genet Metab Rep. 2017 Oct 07;13:99-104 - PubMed
  9. J Hum Genet. 2013 Dec;58(12):769-74 - PubMed
  10. Pediatr Nephrol. 2007 Aug;22(8):1209-14 - PubMed
  11. BMC Pediatr. 2019 Jun 13;19(1):195 - PubMed
  12. J Inherit Metab Dis. 2016 May;39(3):341-353 - PubMed
  13. J Inherit Metab Dis. 2008 Jun;31(3):368-78 - PubMed
  14. Clin Biochem. 2017 Jan;50(1-2):68-72 - PubMed
  15. J Inherit Metab Dis. 1995;18(2):169-72 - PubMed
  16. Mol Genet Metab. 2013 Dec;110(4):472-6 - PubMed
  17. J Inherit Metab Dis. 1995;18(4):448-61 - PubMed
  18. J Inherit Metab Dis. 2012 Sep;35(5):797-806 - PubMed
  19. Mitochondrion. 2014 Jul;17:150-6 - PubMed
  20. Pediatr Res. 2007 Aug;62(2):225-30 - PubMed
  21. Orphanet J Rare Dis. 2013 Jan 10;8:6 - PubMed
  22. J Inherit Metab Dis. 2005;28(3):415-23 - PubMed
  23. Acta Paediatr Taiwan. 2003 May-Jun;44(3):171-3 - PubMed
  24. Orphanet J Rare Dis. 2014 Oct 25;9:159 - PubMed
  25. J Pediatr. 2002 Feb;140(2):261-3 - PubMed
  26. Am J Transplant. 2015 Mar;15(3):786-91 - PubMed
  27. Mol Genet Metab Rep. 2017 Oct 03;13:83-89 - PubMed
  28. JIMD Rep. 2020 Jan 22;51(1):89-104 - PubMed
  29. J Inherit Metab Dis. 2008 Feb;31(1):35-43 - PubMed
  30. J Child Neurol. 1995 Jan;10(1):18-22 - PubMed
  31. J Inherit Metab Dis. 2020 May;43(3):424-437 - PubMed
  32. J Inherit Metab Dis. 2015 Nov;38(6):1059-74 - PubMed
  33. J Inherit Metab Dis. 2015 Nov;38(6):1041-57 - PubMed
  34. Pediatr Nephrol. 2016 Sep;31(9):1517-29 - PubMed
  35. Mol Genet Metab. 2018 Apr;123(4):433-440 - PubMed
  36. J Inherit Metab Dis. 2014 Nov;37(6):899-907 - PubMed
  37. Mol Genet Metab Rep. 2016 Jul 13;8:34-40 - PubMed
  38. J Child Neurol. 1995 Jan;10(1):25-30 - PubMed
  39. Neonatology. 2016;109(4):303-7 - PubMed
  40. Eur J Pediatr. 2003 Dec;162 Suppl 1:S21-4 - PubMed
  41. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175 - PubMed
  42. Hum Gene Ther. 2014 Sep;25(9):837-43 - PubMed
  43. Pediatr Phys Ther. 2019 Oct;31(4):315-322 - PubMed
  44. J Pediatr. 2015 Jun;166(6):1346-50 - PubMed
  45. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S199-203 - PubMed
  46. Mol Genet Metab. 2019 Dec;128(4):431-443 - PubMed
  47. J Inherit Metab Dis. 2020 May;43(3):409-423 - PubMed
  48. J Inherit Metab Dis. 2018 Nov;41(6):1179-1187 - PubMed
  49. Hum Mol Genet. 2012 Mar 15;21(6):1410-8 - PubMed
  50. Brain Dev. 1994 Nov;16 Suppl:125-44 - PubMed
  51. Pediatr Nephrol. 2013 Feb;28(2):227-35 - PubMed
  52. J Inherit Metab Dis. 2020 Nov;43(6):1173-1185 - PubMed
  53. J Inherit Metab Dis. 2008 Jun;31(3):350-60 - PubMed
  54. J Pediatr. 1998 Jun;132(6):1043-4 - PubMed
  55. J Child Neurol. 2014 Feb;29(2):274-9 - PubMed
  56. J Neurogenet. 1985 Feb;2(1):31-9 - PubMed
  57. BMJ. 2008 Apr 26;336(7650):924-6 - PubMed
  58. JIMD Rep. 2019 Jun 19;48(1):83-89 - PubMed
  59. Hum Gene Ther. 2019 Oct;30(10):1236-1244 - PubMed
  60. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S97-101 - PubMed
  61. Pediatrics. 2015 Sep;136(3):e706-8 - PubMed
  62. Eur J Pediatr. 1996 Mar;155(3):205-10 - PubMed
  63. J Formos Med Assoc. 2005 Sep;104(9):623-9 - PubMed
  64. J Inherit Metab Dis. 2020 Mar;43(2):234-243 - PubMed
  65. J Inherit Metab Dis. 2018 Jul;41(4):623-629 - PubMed
  66. Adv Ther. 2020 May;37(5):1866-1896 - PubMed
  67. J Pediatr. 1985 Jan;106(1):62-5 - PubMed
  68. JIMD Rep. 2016;30:39-44 - PubMed
  69. Cell Rep. 2017 Dec 19;21(12):3548-3558 - PubMed
  70. Ther Apher Dial. 2011 Oct;15(5):488-92 - PubMed
  71. J Pediatr. 2000 May;136(5):659-63 - PubMed
  72. Hum Mutat. 2016 Aug;37(8):745-54 - PubMed
  73. Pediatr Transplant. 2006 Nov;10(7):773-81 - PubMed
  74. Arch Neurol. 1999 Sep;56(9):1143-7 - PubMed
  75. J Inherit Metab Dis. 2008 Jun;31(3):361-7 - PubMed
  76. Pediatr Transplant. 2009 Sep;13(6):790-3 - PubMed
  77. Ophthalmology. 2003 Sep;110(9):1850-4 - PubMed
  78. Neuropediatrics. 2010 Dec;41(6):256-60 - PubMed
  79. J Genet Couns. 2016 Oct;25(5):936-44 - PubMed
  80. J Child Neurol. 2013 Jan;28(1):128-31 - PubMed
  81. J Pediatr. 2010 Jan;156(1):128-34 - PubMed
  82. BMJ. 2001 Aug 11;323(7308):334-6 - PubMed
  83. Neuropediatrics. 2009 Apr;40(2):76-81 - PubMed
  84. Mol Genet Metab. 2016 Dec;119(4):317-321 - PubMed
  85. J Inherit Metab Dis. 2014 Jan;37(1):31-7 - PubMed
  86. Eur J Pediatr. 1991 Feb;150(4):259-63 - PubMed
  87. J Inherit Metab Dis. 2009 Oct;32(5):630 - PubMed
  88. J Pediatr. 1994 Feb;124(2):239-43 - PubMed
  89. J Med Screen. 2017 Jun;24(2):58-61 - PubMed
  90. AJNR Am J Neuroradiol. 2015 Jan;36(1):194-201 - PubMed
  91. Mol Genet Metab. 2012 Nov;107(3):617-9 - PubMed
  92. Am J Ophthalmol. 2009 May;147(5):929-33 - PubMed
  93. Eur J Pediatr. 1994 Jan;153(1):53 - PubMed
  94. J Pediatr Endocrinol Metab. 2013;26(5-6):497-501 - PubMed
  95. Eur J Hum Genet. 2000 Mar;8(3):187-94 - PubMed
  96. J Obstet Gynaecol. 2004 Nov;24(8):927-8 - PubMed
  97. Pediatr Neonatol. 2020 Apr;61(2):148-154 - PubMed
  98. Liver Transpl. 2011 Jun;17(6):661-7 - PubMed
  99. Mol Genet Metab. 2013 Sep-Oct;110(1-2):106-10 - PubMed
  100. Liver Transpl. 2019 Jan;25(1):176-177 - PubMed
  101. Anal Bioanal Chem. 2011 Jun;400(7):1953-8 - PubMed
  102. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7 - PubMed
  103. Mol Genet Metab. 2009 Jul;97(3):172-8 - PubMed
  104. JIMD Rep. 2013;7:63-6 - PubMed
  105. AJNR Am J Neuroradiol. 1994 Sep;15(8):1459-73 - PubMed
  106. J Inherit Metab Dis. 2004;27(2):205-10 - PubMed
  107. J Am Diet Assoc. 2000 Sep;100(9):1074-6 - PubMed
  108. JIMD Rep. 2016;28:29-39 - PubMed
  109. J Pediatr. 2017 Sep;188:163-172 - PubMed
  110. J Inherit Metab Dis. 2011 Jun;34(3):695-700 - PubMed
  111. Pediatr Res. 1990 Apr;27(4 Pt 1):413-6 - PubMed
  112. Liver Transpl. 2018 Sep;24(9):1260-1270 - PubMed
  113. Am J Med Genet. 1993 Jun 1;46(4):455-6 - PubMed
  114. Pediatr Nephrol. 2006 Feb;21(2):270-3 - PubMed
  115. J Inherit Metab Dis. 2012 Jan;35(1):41-9 - PubMed
  116. Mol Genet Metab. 2003 Sep-Oct;80(1-2):181-8 - PubMed
  117. Prog Transplant. 2019 Dec;29(4):364-366 - PubMed
  118. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):147-155 - PubMed
  119. Eur J Pediatr. 2014 Jul;173(7):971-4 - PubMed
  120. J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):e73-e76 - PubMed
  121. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):288-98 - PubMed
  122. J Neuroophthalmol. 2013 Mar;33(1):90-1 - PubMed
  123. Orphanet J Rare Dis. 2017 Feb 13;12(1):30 - PubMed
  124. J Pediatr. 1995 Jun;126(6):916-22 - PubMed
  125. J Inherit Metab Dis. 1980;2(3):65-9 - PubMed
  126. J Inherit Metab Dis. 2019 Sep;42(5):730-744 - PubMed
  127. Clin Chim Acta. 2015 Oct 23;450:342-8 - PubMed
  128. JIMD Rep. 2016;25:87-94 - PubMed
  129. Mol Genet Metab. 2012 Jan;105(1):5-9 - PubMed
  130. JIMD Rep. 2017;31:1-9 - PubMed
  131. Eur J Pediatr. 1990 Dec;150(2):115-8 - PubMed
  132. J Pediatr Gastroenterol Nutr. 2019 Aug;69(2):160-162 - PubMed
  133. Pediatrics. 2012 Jun;129(6):e1541-51 - PubMed
  134. Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71 - PubMed
  135. Hum Gene Ther. 2014 Jun;25(6):529-38 - PubMed
  136. Am J Clin Nutr. 2011 Jan;93(1):47-56 - PubMed
  137. Mol Genet Metab. 2006 Aug;88(4):322-6 - PubMed
  138. Pediatr Transplant. 2006 Dec;10(8):943-7 - PubMed
  139. Pediatr Nephrol. 1993 Feb;7(1):81-2 - PubMed
  140. Mol Genet Metab. 2012 Aug;106(4):424-9 - PubMed
  141. J Pediatr. 2015 Jun;166(6):1455-61.e1 - PubMed
  142. J Pediatr. 2015 Nov;167(5):1173 - PubMed
  143. J Pediatr. 2007 Feb;150(2):192-7, 197.e1 - PubMed
  144. JIMD Rep. 2019;45:29-36 - PubMed
  145. Eur J Pediatr. 1998 Jan;157(1):50-2 - PubMed
  146. Front Pediatr. 2019 Mar 21;7:87 - PubMed
  147. Neurology. 2018 Sep 18;91(12):565-567 - PubMed
  148. Mol Genet Metab. 2013 Aug;109(4):397-401 - PubMed
  149. Mol Genet Metab. 2011 Aug;103(4):338-40 - PubMed
  150. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9 - PubMed
  151. Orphanet J Rare Dis. 2011 May 09;6:19 - PubMed
  152. J Pediatr. 1994 Dec;125(6 Pt 1):903-8 - PubMed
  153. Genet Med. 2019 Dec;21(12):2830-2835 - PubMed
  154. J Pediatr Gastroenterol Nutr. 2008 Sep;47(3):370-1 - PubMed
  155. Dialogues Clin Neurosci. 2014 Jun;16(2):137-45 - PubMed
  156. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Jul 15;870(2):160-3 - PubMed
  157. Hum Mutat. 2014 Dec;35(12):1449-58 - PubMed
  158. Am J Hum Genet. 1980 Mar;32(2):236-45 - PubMed
  159. JIMD Rep. 2017;37:27-35 - PubMed
  160. N Engl J Med. 1983 Apr 14;308(15):857-61 - PubMed
  161. Genet Med. 2016 Apr;18(4):386-95 - PubMed
  162. Am J Transplant. 2013 Jul;13(7):1918-22 - PubMed
  163. Neurology. 1989 Oct;39(10):1343-5 - PubMed
  164. Am J Med Genet A. 2015 Mar;167A(3):635-8 - PubMed
  165. Pharm Res. 2006 Aug;23(8):1729-35 - PubMed
  166. Liver Transpl. 2018 Dec;24(12):1736-1745 - PubMed
  167. Int J Antimicrob Agents. 2018 Mar;51(3):319-325 - PubMed
  168. J Pediatr. 2017 Jan;180:200-205.e8 - PubMed
  169. Pediatr Res. 1986 Aug;20(8):783-8 - PubMed
  170. J Inherit Metab Dis. 2018 Jul;41(4):613-621 - PubMed
  171. JIMD Rep. 2014;12:5-10 - PubMed
  172. Am J Transplant. 2005 Nov;5(11):2754-63 - PubMed
  173. Am J Transplant. 2007 Dec;7(12):2782-7 - PubMed
  174. Clin Chim Acta. 2018 Dec;487:41-45 - PubMed
  175. Nat Commun. 2020 Feb 20;11(1):970 - PubMed
  176. Paediatr Anaesth. 2016 Jul;26(7):694-702 - PubMed
  177. JIMD Rep. 2017;32:105-115 - PubMed
  178. J Inherit Metab Dis. 2005;28(4):517-24 - PubMed
  179. Mol Genet Metab. 2005 Aug;85(4):286-90 - PubMed
  180. J Pediatr. 2011 Nov;159(5):862-4 - PubMed
  181. Brain Dev. 1994 Nov;16 Suppl:46-57 - PubMed
  182. JCI Insight. 2018 Dec 6;3(23): - PubMed
  183. Neuropediatrics. 2009 Jun;40(3):120-5 - PubMed
  184. Eur J Pediatr. 1993 May;152(5):441-5 - PubMed
  185. Eur J Pediatr. 1994;153(7 Suppl 1):S68-80 - PubMed
  186. J Pediatr. 2000 Oct;137(4):572-4 - PubMed
  187. Am J Transplant. 2007 Sep;7(9):2200-3 - PubMed
  188. Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43 - PubMed
  189. Orphanet J Rare Dis. 2018 Dec 6;13(1):219 - PubMed
  190. J Inherit Metab Dis. 2019 Jan;42(1):107-116 - PubMed
  191. J Inherit Metab Dis. 2012 May;35(3):419-24 - PubMed
  192. Pediatr Transplant. 2014 Feb;18(1):6-15 - PubMed
  193. Pediatrics. 1961 Apr;27:522-38 - PubMed
  194. J Neuroophthalmol. 2011 Dec;31(4):344-6 - PubMed
  195. Br J Ophthalmol. 2016 Jan;100(1):98-104 - PubMed
  196. Genet Med. 2020 Feb;22(2):432-436 - PubMed
  197. Genet Med. 2013 Dec;15(12):990-6 - PubMed
  198. Pediatr Transplant. 2010 Mar;14(2):268-75 - PubMed
  199. Pediatrics. 2015 Jul;136(1):e252-6 - PubMed
  200. Mol Genet Metab. 2008 Jan;93(1):22-9 - PubMed
  201. Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1265-1272 - PubMed
  202. J Inherit Metab Dis. 2009 Aug;32(4):523-33 - PubMed
  203. Eur J Pediatr. 2002 Jul;161(7):377-9 - PubMed
  204. Orphanet J Rare Dis. 2013 Sep 23;8:148 - PubMed
  205. Mol Genet Metab. 2017 Sep;122(1-2):51-59 - PubMed
  206. Pediatr Transplant. 2006 Aug;10(5):623-8 - PubMed
  207. J Inherit Metab Dis. 2019 Sep;42(5):793-802 - PubMed
  208. Pediatr Neurol. 1992 Sep-Oct;8(5):333-7 - PubMed
  209. Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9 - PubMed
  210. Pediatr Transplant. 2012 May;16(3):230-4 - PubMed
  211. J Child Neurol. 2012 Jun;27(6):799-803 - PubMed
  212. J Inherit Metab Dis. 2021 May;44(3):566-592 - PubMed
  213. Orphanet J Rare Dis. 2014 Sep 02;9:130 - PubMed
  214. Brain Dev. 2011 Oct;33(9):790-5 - PubMed
  215. Arch Pathol Lab Med. 2003 Aug;127(8):e325-8 - PubMed
  216. J Pediatr. 1988 Dec;113(6):1022-7 - PubMed
  217. J Inherit Metab Dis. 1995;18(2):138-42 - PubMed
  218. Orphanet J Rare Dis. 2018 Jun 20;13(1):97 - PubMed
  219. Pediatrics. 2011 May;127(5):e1147-53 - PubMed
  220. Eur J Pediatr. 2011 Feb;170(2):241-5 - PubMed
  221. Clin Chem. 2007 Jul;53(7):1364-9 - PubMed
  222. Neuropediatrics. 2011 Oct;42(5):210 - PubMed
  223. J Inherit Metab Dis. 2008 Jun;31(3):379-85 - PubMed
  224. Pediatr Transplant. 2019 Jun;23(4):e13407 - PubMed
  225. Transpl Int. 2015 Dec;28(12):1447-50 - PubMed
  226. J Pediatr. 2011 May;158(5):866-7; author reply 867 - PubMed

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