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Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.

作者信息

Baerlocher K E, Feldges A, Weissert M, Simonsz H J, Rötig A

机构信息

Children's Hospital, St. Gallen, Switzerland.

出版信息

J Inherit Metab Dis. 1992;15(3):327-30. doi: 10.1007/BF02435968.

DOI:10.1007/BF02435968
PMID:1405465
Abstract
摘要

相似文献

1
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.
J Inherit Metab Dis. 1992;15(3):327-30. doi: 10.1007/BF02435968.
2
Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay.
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3
Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion.
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4
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome.一例德托尼-德布雷-范科尼综合征和皮尔逊综合征患者线粒体DNA的缺失
Pediatr Nephrol. 1994 Apr;8(2):164-8. doi: 10.1007/BF00865468.
5
Clinical implications of duplicated mtDNA in Pearson syndrome.
Am J Med Genet. 2001 Jan 22;98(3):205-9. doi: 10.1002/1096-8628(20010122)98:3<205::aid-ajmg1077>3.0.co;2-p.
6
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.皮尔逊综合征以及线粒体DNA中缺失二聚体和重复的作用。
J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18.
7
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA.一名因线粒体DNA新发缺失导致皮尔逊综合征婴儿的血液学特征及临床病程
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8
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.Pearson骨髓-胰腺综合征中线粒体基因组的位点特异性缺失。
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9
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.皮尔逊骨髓-胰腺综合征中线粒体DNA重排的谱系
Hum Mol Genet. 1995 Aug;4(8):1327-30. doi: 10.1093/hmg/4.8.1327.
10
Pearson's marrow/pancreas syndrome: a histological and genetic study.皮尔逊骨髓/胰腺综合征：一项组织学与遗传学研究。
Virchows Arch A Pathol Anat Histopathol. 1993;423(3):227-31. doi: 10.1007/BF01614775.

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Fetal and obstetrics manifestations of mitochondrial diseases.线粒体疾病的胎儿和产科表现。
J Transl Med. 2024 Sep 23;22(1):853. doi: 10.1186/s12967-024-05633-6.
2
Therapeutic Approaches to Treat Mitochondrial Diseases: "One-Size-Fits-All" and "Precision Medicine" Strategies.治疗线粒体疾病的方法：“一刀切”与“精准医学”策略
Pharmaceutics. 2020 Nov 11;12(11):1083. doi: 10.3390/pharmaceutics12111083.
3
Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction.通过聚合酶链反应筛选程序检测线粒体DNA缺失。

本文引用的文献

1
Juvenile Pearson syndrome.
J Child Neurol. 1990 Jul;5(3):187-90.
2
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.卡恩斯-塞尔综合征中突变线粒体DNA比例的逐渐增加。
Pediatr Res. 1990 Aug;28(2):131-6. doi: 10.1203/00006450-199008000-00011.
3
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.
J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881.
4
Mol Cell Biochem. 1997 Sep;174(1-2):221-5.
4
A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.一种拓扑异构酶II切割位点与一种新的线粒体DNA缺失相关。
Hum Genet. 1995 Jan;95(1):75-81. doi: 10.1007/BF00225079.
5
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.伴有胰岛素依赖型糖尿病、进行性肾小管病、有机酸尿症及胎儿血红蛋白升高的皮尔逊骨髓-胰腺综合征，由线粒体DNA的缺失和重复所致。
Eur J Pediatr. 1993 Jan;152(1):44-50. doi: 10.1007/BF02072515.
6
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.皮尔逊综合征：三羧酸和尿素循环代谢产物改变、肾上腺功能不全及角膜混浊。
J Inherit Metab Dis. 1993;16(3):537-40. doi: 10.1007/BF00711675.
7
Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion.一名曾患由线粒体DNA缺失引起的皮尔逊综合征且存活下来的男孩患上了卡恩斯-塞尔综合征。
Doc Ophthalmol. 1992;82(1-2):73-9. doi: 10.1007/BF00156996.
Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.
Pearson骨髓-胰腺综合征中线粒体基因组广泛的多组织缺失。
J Pediatr. 1990 Oct;117(4):599-602. doi: 10.1016/s0022-3476(05)80698-5.
5
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.一名线粒体DNA缺失患者的皮尔逊综合征和线粒体脑肌病
Am J Hum Genet. 1991 Jan;48(1):39-42.
6
Organic aciduria in Pearson syndrome.皮尔逊综合征中的有机酸尿症。
Eur J Pediatr. 1991 Jul;150(9):684. doi: 10.1007/BF02072635.
7
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.Pearson骨髓-胰腺综合征中线粒体基因组的位点特异性缺失。
Genomics. 1991 Jun;10(2):502-4. doi: 10.1016/0888-7543(91)90342-c.
8
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.一种伴有骨髓前体细胞空泡化和外分泌胰腺功能障碍的难治性铁粒幼细胞贫血新综合征。
J Pediatr. 1979 Dec;95(6):976-84. doi: 10.1016/s0022-3476(79)80286-3.