Works matching Pearson marrow-pancreas syndrome
Results: 25
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.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327
- By:
- Publication type:
- Article
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 195, doi. 10.1038/sj.ejhg.5200444
- By:
- Publication type:
- Article
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report.
- Published in:
- Molecular Medicine Reports, 2015, v. 11, n. 5, p. 3741, doi. 10.3892/mmr.2014.3127
- By:
- Publication type:
- Article
Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1509
- By:
- Publication type:
- Article
Pearson marrow‐pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.
- Published in:
- Annals of Noninvasive Electrocardiology, 2020, v. 25, n. 1, p. N.PAG, doi. 10.1111/anec.12681
- By:
- Publication type:
- Article
Pearson marrow-pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Correspondence.
- Published in:
- Indian Pediatrics, 2016, v. 53, n. 3, p. 262, doi. 10.1007/s13312-016-0833-0
- By:
- Publication type:
- Article
Redefining phenotypes associated with mitochondrial DNA single deletion.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y
- By:
- Publication type:
- Article
Pearson's Marrow-Pancreas Syndrome in 2 Turkish Children.
- Published in:
- Acta Haematologica, 1992, v. 87, n. 4, p. 206, doi. 10.1159/000204769
- By:
- Publication type:
- Article
Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.
- Published in:
- American Journal of Hematology, 2023, v. 98, n. 12, p. E376, doi. 10.1002/ajh.27107
- By:
- Publication type:
- Article
17-month-old child with Pearson syndrome and corneal haze - case report.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA.
- Published in:
- British Journal of Haematology, 1995, v. 90, n. 2, p. 469, doi. 10.1111/j.1365-2141.1995.tb05178.x
- By:
- Publication type:
- Article
A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression.
- Published in:
- Mitochondrial DNA. Part A, 2016, v. 27, n. 4, p. 2492, doi. 10.3109/19401736.2015.1033712
- By:
- Publication type:
- Article
Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature.
- Published in:
- Open Forum Infectious Diseases, 2016, v. 3, n. 4, p. 1, doi. 10.1093/ofid/ofw183
- By:
- Publication type:
- Article
Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 5, p. 485, doi. 10.1093/ejendo/lvad137
- By:
- Publication type:
- Article
Pearson marrow pancreas syndrome: a molecular study and clinical management.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 338, doi. 10.1111/j.1399-0004.1997.tb02484.x
- By:
- Publication type:
- Article
Insights into Medium-chain Acyl-CoA Dehydrogenase Structure by Molecular Dynamics Simulations.
- Published in:
- Chemical Biology & Drug Design, 2016, v. 88, n. 2, p. 281, doi. 10.1111/cbdd.12755
- By:
- Publication type:
- Article
Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion.
- Published in:
- Stem Cells, 2013, v. 31, n. 7, p. 1287, doi. 10.1002/stem.1354
- By:
- Publication type:
- Article
Mitochondrial DNA mutations in renal disease: an overview.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 1, p. 9, doi. 10.1007/s00467-019-04404-6
- By:
- Publication type:
- Article
Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8
- By:
- Publication type:
- Article
Measurement of the Induction of the 4977-bp Common Deletion in Human Mitochondrial DNA by Gamma Radiation Using Real-time PCR.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A666, doi. 10.1096/fasebj.21.5.a666-b
- By:
- Publication type:
- Article
Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome.
- Published in:
- Dubai Medical Journal, 2021, v. 4, n. 3, p. 276, doi. 10.1159/000516288
- By:
- Publication type:
- Article