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For: Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease. J Inherit Metab Dis 2015;38:445-57. [PMID: 25352051 DOI: 10.1007/s10545-014-9778-4] [Cited by in Crossref: 49] [Cited by in F6Publishing: 47] [Article Influence: 6.1] [Reference Citation Analysis]
Number Citing Articles
1 Pérez-Albert P, de Lucas Collantes C, Fernández-García MÁ, de Rojas T, Aparicio López C, Gutiérrez-Solana L. Mitochondrial Disease in Children: The Nephrologist's Perspective. JIMD Rep 2018;42:61-70. [PMID: 29249003 DOI: 10.1007/8904_2017_78] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
2 Goldstein A, Rahman S. Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. J Inherit Metab Dis 2021;44:343-57. [PMID: 33016339 DOI: 10.1002/jimd.12320] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
3 Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2017;19. [PMID: 28749475 DOI: 10.1038/gim.2017.107] [Cited by in Crossref: 76] [Cited by in F6Publishing: 66] [Article Influence: 15.2] [Reference Citation Analysis]
4 Boal RL, Ng YS, Pickett SJ, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R. Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease. J Clin Endocrinol Metab 2019;104:2057-66. [PMID: 30423112 DOI: 10.1210/jc.2018-00957] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
5 Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Spectrum of combined respiratory chain defects. J Inherit Metab Dis 2015;38:629-40. [PMID: 25778941 DOI: 10.1007/s10545-015-9831-y] [Cited by in Crossref: 62] [Cited by in F6Publishing: 52] [Article Influence: 8.9] [Reference Citation Analysis]
6 Finsterer J, Zarrouk-Mahjoub S. Cerebral imaging in paediatric mitochondrial disorders. Neuroradiol J 2018;31:596-608. [PMID: 29978728 DOI: 10.1177/1971400918786054] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
7 Hu C, Li X, Zhao L, Shi Y, Zhou S, Wang Y. Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. Front Neurol 2020;11:1000. [PMID: 33013660 DOI: 10.3389/fneur.2020.01000] [Reference Citation Analysis]
8 Semeraro M, Boenzi S, Carrozzo R, Diodato D, Martinelli D, Olivieri G, Antonetti G, Sacchetti E, Catesini G, Rizzo C, Dionisi-Vici C. The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders. Clin Chim Acta 2018;481:156-60. [PMID: 29534959 DOI: 10.1016/j.cca.2018.03.002] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
9 Pronman L, Rondinelli M, Burkardt DD, Velayuthan S, Khalili AS, Bedoyan JK. Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants. Clin Pediatr (Phila) 2019;58:819-24. [PMID: 30845838 DOI: 10.1177/0009922819834285] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
10 Anteneová N, Kelifová S, Kolářová H, Vondráčková A, Tóthová I, Lišková P, Magner M, Zámečník J, Hansíková H, Zeman J, Tesařová M, Honzík T. The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions. Brain Sci 2020;10:E766. [PMID: 33105723 DOI: 10.3390/brainsci10110766] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
11 Finsterer J, Scorza FA. Renal manifestations of primary mitochondrial disorders. Biomed Rep 2017;6:487-94. [PMID: 28515908 DOI: 10.3892/br.2017.892] [Cited by in Crossref: 29] [Cited by in F6Publishing: 20] [Article Influence: 5.8] [Reference Citation Analysis]
12 Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet J Rare Dis 2016;11:90. [PMID: 27370603 DOI: 10.1186/s13023-016-0477-0] [Cited by in Crossref: 48] [Cited by in F6Publishing: 41] [Article Influence: 8.0] [Reference Citation Analysis]
13 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
14 Zöggeler T, Scholl-bürgi S, Kropshofer G, Geiger R, Mayr JA, Zlamy M, Maurer K, Karall D. Pearson-Syndrom: Fallbericht einer seltenen multisystemischen mitochondrialen Erkrankung. Monatsschr Kinderheilkd 2019;167:441-6. [DOI: 10.1007/s00112-018-0479-1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
15 Finsterer J. Comprehensive clinical and genetic work-up of patients carrying single mtDNA deletions is warranted. Transl Pediatr 2021;10:1755-6. [PMID: 34295792 DOI: 10.21037/tp-21-79] [Reference Citation Analysis]
16 Rahman S. Mitochondrial disease in children. J Intern Med 2020;287:609-33. [PMID: 32176382 DOI: 10.1111/joim.13054] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 7.5] [Reference Citation Analysis]
17 Khasawneh R, Alsokhni H, Alzghoul B, Momani A, Abualsheikh N, Kamal N, Qatawneh M. A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome. Med Arch 2018;72:148-50. [PMID: 29736106 DOI: 10.5455/medarh.2018.72.148-150] [Reference Citation Analysis]
18 Pope S, Artuch R, Heales S, Rahman S. Cerebral folate deficiency: Analytical tests and differential diagnosis. J Inherit Metab Dis 2019;42:655-72. [PMID: 30916789 DOI: 10.1002/jimd.12092] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 4.3] [Reference Citation Analysis]
19 Stenton SL, Prokisch H. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine 2020;56:102784. [PMID: 32454403 DOI: 10.1016/j.ebiom.2020.102784] [Cited by in Crossref: 37] [Cited by in F6Publishing: 32] [Article Influence: 18.5] [Reference Citation Analysis]
20 Donadieu J, Frenz S, Merz L, Sicre De Fontbrune F, Rotulo GA, Beaupain B, Biosse-Duplan M, Audrain M, Croisille L, Ancliff P, Klein C, Bellanné-Chantelot C. Chronic neutropenia: how best to assess severity and approach management? Expert Rev Hematol 2021;14:945-60. [PMID: 34486458 DOI: 10.1080/17474086.2021.1976634] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
21 Yoshimi A, Grünert SC, Cario H, Fisch A, Gross-Wieltsch U, Timmermann K, Kontny U, Lobitz S, Odenthal HS, Schmid I, Uetz B, Höll T, Rötig A, Lücke T, Borkhardt A, Strauß G, Hohnecker A, Metzler M, Karall D, Niemeyer CM. Haematological characteristics and spontaneous haematological recovery in Pearson syndrome. Br J Haematol 2021;193:1283-7. [PMID: 33837965 DOI: 10.1111/bjh.17434] [Reference Citation Analysis]
22 Rahman S. Emerging aspects of treatment in mitochondrial disorders. J Inherit Metab Dis 2015;38:641-53. [DOI: 10.1007/s10545-015-9855-3] [Cited by in Crossref: 26] [Cited by in F6Publishing: 19] [Article Influence: 3.7] [Reference Citation Analysis]
23 Morava E, Brown GK. Next generation mitochondrial disease: change in diagnostics with eyes on therapy. J Inherit Metab Dis 2015;38:387-8. [PMID: 25926091 DOI: 10.1007/s10545-015-9852-6] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
24 Wang J, Deng Q, He X, Chen D, Hang S, Gao Y, Chen Y. Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene. Clin Chim Acta 2021;521:244-50. [PMID: 34310935 DOI: 10.1016/j.cca.2021.07.019] [Reference Citation Analysis]
25 Rius R, Compton AG, Baker NL, Welch AE, Coman D, Kava MP, Minoche AE, Cowley MJ, Thorburn DR, Christodoulou J. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases. Genes (Basel) 2021;12:607. [PMID: 33924034 DOI: 10.3390/genes12040607] [Reference Citation Analysis]
26 Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J. Sideroblastic anemia associated with multisystem mitochondrial disorders. Pediatr Blood Cancer 2019;66:e27591. [PMID: 30588737 DOI: 10.1002/pbc.27591] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
27 Peron C, Mauceri R, Iannielli A, Cavaliere A, Legati A, Rizzo A, Sciacca FL, Broccoli V, Tiranti V. Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome. Stem Cell Res 2021;50:102151. [PMID: 33434818 DOI: 10.1016/j.scr.2020.102151] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
28 Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF. Blood biomarkers for assessment of mitochondrial dysfunction: An expert review. Mitochondrion 2021:S1567-7249(21)00148-3. [PMID: 34740866 DOI: 10.1016/j.mito.2021.10.008] [Reference Citation Analysis]
29 Farruggia P, Di Cataldo A, Pinto RM, Palmisani E, Macaluso A, Valvo LL, Cantarini ME, Tornesello A, Corti P, Fioredda F, Varotto S, Martire B, Moroni I, Puccio G, Russo G, Dufour C, Pillon M. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). JIMD Rep 2016;26:37-43. [PMID: 26238250 DOI: 10.1007/8904_2015_470] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 2.9] [Reference Citation Analysis]
30 Varhaug KN, Nido GS, de Coo I, Isohanni P, Suomalainen A, Tzoulis C, Knappskog P, Bindoff LA. Using urine to diagnose large-scale mtDNA deletions in adult patients. Ann Clin Transl Neurol 2020;7:1318-26. [PMID: 32634300 DOI: 10.1002/acn3.51119] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
31 Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S. The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. BMC Neurol 2017;17:202. [PMID: 29166883 DOI: 10.1186/s12883-017-0983-2] [Cited by in Crossref: 12] [Cited by in F6Publishing: 15] [Article Influence: 2.4] [Reference Citation Analysis]
32 Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. J Med Genet 2021:jmedgenet-2021-108006. [PMID: 34872991 DOI: 10.1136/jmedgenet-2021-108006] [Reference Citation Analysis]
33 Kerr M, Hume S, Omar F, Koo D, Barnes H, Khan M, Aman S, Wei XC, Alfuhaid H, McDonald R, McDonald L, Newell C, Sparkes R, Hittel D, Khan A. MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease. Mol Genet Metab 2020;131:66-82. [PMID: 32980267 DOI: 10.1016/j.ymgme.2020.08.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
34 Broomfield AA, Padidela R, Wilkinson S. Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children. Pediatr Clin North Am 2021;68:81-102. [PMID: 33228944 DOI: 10.1016/j.pcl.2020.09.011] [Reference Citation Analysis]
35 Schoser B, Hahn A, James E, Gupta D, Gitlin M, Prasad S. A Systematic Review of the Health Economics of Pompe Disease. Pharmacoecon Open 2019;3:479-93. [PMID: 31049836 DOI: 10.1007/s41669-019-0142-3] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
36 Rahman S, Mayr JA. Disorders of Oxidative Phosphorylation. In: Saudubray J, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2016. pp. 223-42. [DOI: 10.1007/978-3-662-49771-5_14] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
37 Tadiotto E, Maines E, Degani D, Balter R, Bordugo A, Cesaro S. Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. Pediatr Blood Cancer 2018;65. [PMID: 29286581 DOI: 10.1002/pbc.26939] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.6] [Reference Citation Analysis]
38 Davison JE, Rahman S. Recognition, investigation and management of mitochondrial disease. Arch Dis Child 2017;102:1082-90. [PMID: 28647693 DOI: 10.1136/archdischild-2016-311370] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 4.2] [Reference Citation Analysis]
39 Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S. Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol 2017;13:92-104. [PMID: 27716753 DOI: 10.1038/nrendo.2016.151] [Cited by in Crossref: 86] [Cited by in F6Publishing: 71] [Article Influence: 14.3] [Reference Citation Analysis]
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41 Rahman J, Rahman S. Mitochondrial medicine in the omics era. The Lancet 2018;391:2560-74. [DOI: 10.1016/s0140-6736(18)30727-x] [Cited by in Crossref: 106] [Cited by in F6Publishing: 52] [Article Influence: 26.5] [Reference Citation Analysis]
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43 Pardo Ruiz E, Maturana Martínez D, Vázquez López M, Ruiz Martín Y. Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid. Neurologia (Engl Ed) 2019;34:618-20. [PMID: 28318733 DOI: 10.1016/j.nrl.2017.01.005] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
44 Garone C, Minczuk M, Keshavan N, Rahman S. Natural history of mitochondrial disorders: a systematic review. Essays in Biochemistry 2018;62:423-42. [DOI: 10.1042/ebc20170108] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 3.8] [Reference Citation Analysis]
45 Muraresku CC, McCormick EM, Falk MJ. Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies. Curr Genet Med Rep 2018;6:62-72. [PMID: 30393588 DOI: 10.1007/s40142-018-0138-9] [Cited by in Crossref: 20] [Cited by in F6Publishing: 14] [Article Influence: 5.0] [Reference Citation Analysis]
46 Farruggia P, Di Marco F, Dufour C. Pearson syndrome. Expert Rev Hematol 2018;11:239-46. [PMID: 29337599 DOI: 10.1080/17474086.2018.1426454] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
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48 Reynolds E, Byrne M, Ganetzky R, Parikh S. Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes. Mol Genet Metab 2021;134:301-8. [PMID: 34862134 DOI: 10.1016/j.ymgme.2021.11.004] [Reference Citation Analysis]
49 Choe Y, Park E, Hyun HS, Ko JM, Kang HG, Kim JH, Park SH, Cheong HI. A 7-year-old girl presenting with a Bartter-like phenotype: Answers. Pediatr Nephrol 2017;32:983-5. [PMID: 27534763 DOI: 10.1007/s00467-016-3480-8] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
50 Watson E, Ahmad K, Fraser CL. The neuro-ophthalmology of inherited myopathies. Current Opinion in Ophthalmology 2019;30:476-83. [DOI: 10.1097/icu.0000000000000610] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]