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Items: 1 to 20 of 171

1.

Liver transplantation in severe methylmalonic acidemia: The sooner, the better.

Spada M, Calvo PL, Brunati A, Peruzzi L, Dell'Olio D, Romagnoli R, Porta F.

J Pediatr. 2015 Nov;167(5):1173. doi: 10.1016/j.jpeds.2015.08.022. Epub 2015 Sep 9. No abstract available.

PMID:
26362094
2.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP.

Genet Med. 2016 Apr;18(4):396-404. doi: 10.1038/gim.2015.107. Epub 2015 Aug 13.

3.

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

Manoli I, Myles JG, Sloan JL, Shchelochkov OA, Venditti CP.

Genet Med. 2016 Apr;18(4):386-95. doi: 10.1038/gim.2015.102. Epub 2015 Aug 13.

4.

Optic neuropathy in methylmalonic acidemia and propionic acidemia.

Martinez Alvarez L, Jameson E, Parry NR, Lloyd C, Ashworth JL.

Br J Ophthalmol. 2016 Jan;100(1):98-104. doi: 10.1136/bjophthalmol-2015-306798. Epub 2015 Jul 24. Review.

PMID:
26209586
5.

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

Ktena YP, Ramstad T, Baker EH, Sloan JL, Mannes AJ, Manoli I, Venditti CP.

J Inherit Metab Dis. 2015 Sep;38(5):847-53. doi: 10.1007/s10545-015-9816-x. Epub 2015 May 19. Review.

PMID:
25985870
6.

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Ktena YP, Paul SM, Hauser NS, Sloan JL, Gropman A, Manoli I, Venditti CP.

Am J Med Genet A. 2015 Sep;167A(9):2075-84. doi: 10.1002/ajmg.a.37127. Epub 2015 May 10.

PMID:
25959030
7.

Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated?

Ruzkova K, Weingarten TN, Larson KJ, Friedhoff RJ, Gavrilov DK, Sprung J.

Paediatr Anaesth. 2015 Aug;25(8):807-17. doi: 10.1111/pan.12673. Epub 2015 May 5.

PMID:
25943188
8.

Pancytopenia in a patient with methylmalonic acidemia.

MacFarland S, Hartung H.

Blood. 2015 Mar 12;125(11):1840. No abstract available.

9.

Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?

Sloan JL, Manoli I, Venditti CP.

J Pediatr. 2015 Jun;166(6):1346-50. doi: 10.1016/j.jpeds.2015.03.026. Epub 2015 Apr 14. No abstract available.

PMID:
25882873
10.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
11.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
12.

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

Niemi AK, Kim IK, Krueger CE, Cowan TM, Baugh N, Farrell R, Bonham CA, Concepcion W, Esquivel CO, Enns GM.

J Pediatr. 2015 Jun;166(6):1455-61.e1. doi: 10.1016/j.jpeds.2015.01.051. Epub 2015 Mar 11.

PMID:
25771389
13.

Hepatoblastoma in a patient with methylmalonic aciduria.

Chan R, Mascarenhas L, Boles RG, Kerkar N, Genyk Y, Venkatramani R.

Am J Med Genet A. 2015 Mar;167A(3):635-8. doi: 10.1002/ajmg.a.36925.

PMID:
25691417
14.

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.

Raval DB, Merideth M, Sloan JL, Braverman NE, Conway RL, Manoli I, Venditti CP.

J Inherit Metab Dis. 2015 Sep;38(5):839-46. doi: 10.1007/s10545-014-9802-8. Epub 2015 Jan 8. Review.

15.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A.

Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Review.

16.

MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia.

Baker EH, Sloan JL, Hauser NS, Gropman AL, Adams DR, Toro C, Manoli I, Venditti CP.

AJNR Am J Neuroradiol. 2015 Jan;36(1):194-201. doi: 10.3174/ajnr.A4087. Epub 2014 Sep 4.

17.

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR.

Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633.

18.

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.

Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):14-26. doi: 10.1016/j.ymgme.2014.07.009. Epub 2014 Jul 16. Review.

19.

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.

Vernon HJ, Sperati CJ, King JD, Poretti A, Miller NR, Sloan JL, Cameron AM, Myers D, Venditti CP, Valle D.

J Inherit Metab Dis. 2014 Nov;37(6):899-907. doi: 10.1007/s10545-014-9730-7. Epub 2014 Jun 25.

20.

Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

Zsengellér ZK, Aljinovic N, Teot LA, Korson M, Rodig N, Sloan JL, Venditti CP, Berry GT, Rosen S.

Pediatr Nephrol. 2014 Nov;29(11):2139-46. doi: 10.1007/s00467-014-2847-y. Epub 2014 May 28.

PMID:
24865477

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