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Items: 1 to 20 of 114

1.

Corneal endothelial dysfunction in Pearson syndrome.

Kasbekar SA, Gonzalez-Martin JA, Shafiq AE, Chandna A, Willoughby CE.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):55-7. doi: 10.3109/13816810.2011.610862. Epub 2011 Sep 21.

PMID:
21936618
2.

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.

Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S.

J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29.

3.

Pearson syndrome in a Diamond-Blackfan anemia cohort.

Alter BP.

Blood. 2014 Jul 17;124(3):312-3. doi: 10.1182/blood-2014-04-571687.

4.

Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26. Erratum in: J Neurol. 2015 Dec;262(12):2800.

PMID:
25808502
5.

Mitochondrial DNA with a large-scale deletion causes two distinct mitochondrial disease phenotypes in mice.

Katada S, Mito T, Ogasawara E, Hayashi J, Nakada K.

G3 (Bethesda). 2013 Sep 4;3(9):1545-52. doi: 10.1534/g3.113.007245.

6.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M.

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Epub 2015 Jun 16. Review.

PMID:
26074369
7.

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report.

Park J, Ryu H, Jang W, Chae H, Kim M, Kim Y, Kim J, Lee JW, Chung NG, Cho B, Suh BK.

Mol Med Rep. 2015 May;11(5):3741-5. doi: 10.3892/mmr.2014.3127. Epub 2014 Dec 22.

PMID:
25543536
8.

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

Williams TB, Daniels M, Puthenveetil G, Chang R, Wang RY, Abdenur JE.

Mol Genet Metab. 2012 May;106(1):104-7. doi: 10.1016/j.ymgme.2012.01.018. Epub 2012 Jan 28.

PMID:
22424738
9.

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

Coughlin CR 2nd, Ficicioglu C.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S129-31. doi: 10.1007/s10545-009-9041-6. Epub 2010 Jan 27.

PMID:
20107901
10.

A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency.

Murata KY, Sugie H, Nishino I, Kondo T, Ito H.

Muscle Nerve. 2014 Feb;49(2):295-6. doi: 10.1002/mus.24055. No abstract available.

PMID:
23966064
11.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

Gagne KE, Ghazvinian R, Yuan D, Zon RL, Storm K, Mazur-Popinska M, Andolina L, Bubala H, Golebiowska S, Higman MA, Kalwak K, Kurre P, Matysiak M, Niewiadomska E, Pels S, Petruzzi MJ, Pobudejska-Pieniazek A, Szczepanski T, Fleming MD, Gazda HT, Agarwal S.

Blood. 2014 Jul 17;124(3):437-40. doi: 10.1182/blood-2014-01-545830. Epub 2014 Apr 15.

12.

Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.

Aharoni S, Sadeh M, Silver EL, Straussberg R.

Isr Med Assoc J. 2011 Oct;13(10):632-4. No abstract available.

PMID:
22097235
13.

Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome).

Ohkoshi K, Ishida N, Yamaguchi T, Kanki K.

Cornea. 1989 Sep;8(3):210-4.

PMID:
2743782
14.

Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

Antunes AP, Nogueira C, Rocha H, Vilarinho L, Evangelista T.

J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012.

PMID:
24263034
15.

[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

Jinjun C, Wenjuan Q, Ruinan Z, Jun Y, Lianshu H, Huiwen Z, Qigang Z, Xuefan G.

Zhonghua Er Ke Za Zhi. 2015 Apr;53(4):262-7. Chinese.

PMID:
26182500
16.

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

McShane MA, Hammans SR, Sweeney M, Holt IJ, Beattie TJ, Brett EM, Harding AE.

Am J Hum Genet. 1991 Jan;48(1):39-42.

17.

Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy?

Kim J, Medsinge A, Chauhan B, Wiest C, Scanga H, Monaghan R, Moore WH, Nischal KK.

Cornea. 2016 Sep;35(9):1250-4. doi: 10.1097/ICO.0000000000000927. Review.

PMID:
27442316
18.

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.

Siu WK, Mak CM, Siu SL, Siu TS, Pang CY, Lam CW, Kwong NS, Chan AY.

Diagn Mol Pathol. 2012 Sep;21(3):184-7. doi: 10.1097/PDM.0b013e31825554d0.

PMID:
22847164
19.

Biochemical abnormalities in Pearson syndrome.

Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N.

Am J Med Genet A. 2015 Mar;167A(3):621-8. doi: 10.1002/ajmg.a.36939.

PMID:
25691415
20.

A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.

Bu Q, Pan Z.

Indian Pediatr. 2016 Mar;53(3):262. No abstract available.

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