Works matching Pearson syndrome
Results: 127
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
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- Publication type:
- journal article
17-month-old child with Pearson syndrome and corneal haze - case report.
- Published in:
- 2020
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- Publication type:
- Case Study
A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression.
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- Mitochondrial DNA. Part A, 2016, v. 27, n. 4, p. 2492, doi. 10.3109/19401736.2015.1033712
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- Article
Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report.
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- Molecular Medicine Reports, 2015, v. 11, n. 5, p. 3741, doi. 10.3892/mmr.2014.3127
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- Article
Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.
- Published in:
- 2018
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- Publication type:
- Case Study
Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature.
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- Open Forum Infectious Diseases, 2016, v. 3, n. 4, p. 1, doi. 10.1093/ofid/ofw183
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- Article
Preterm twins with antenatal presentation of Pearson syndrome.
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- Case Reports in Perinatal Medicine, 2022, v. 11, n. 1, p. 1, doi. 10.1515/crpm-2021-0083
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- Article
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.
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- Hematology, 2007, v. 12, n. 6, p. 549, doi. 10.1080/10245330701400900
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- Article
Pearson Syndrome and Neuropathy, Ataxia and Retinitis Pigmentosa (NARP).
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- Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 20
- Publication type:
- Article
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S159, doi. 10.1002/mus.880181431
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- Article
Redefining phenotypes associated with mitochondrial DNA single deletion.
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- Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y
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- Publication type:
- Article
Pearson's Marrow-Pancreas Syndrome in 2 Turkish Children.
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- Acta Haematologica, 1992, v. 87, n. 4, p. 206, doi. 10.1159/000204769
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- Article
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
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- British Journal of Haematology, 2021, v. 193, n. 6, p. 1283, doi. 10.1111/bjh.17434
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- Publication type:
- Article
Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: Light and electron microscopic study.
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- Acta Neuropathologica, 1992, v. 84, n. 3, p. 337, doi. 10.1007/BF00227830
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- Publication type:
- Article
Pearson Sendromlu Bir Olguda Mitokondrial Miyopati Rehabilitasyonu.
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- Turkish Journal of Physical Medicine & Rehabilitation / Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi, 2011, p. 341, doi. 10.4274/tftr.14880
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- Publication type:
- Article
Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome.
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- Pediatric Nephrology, 2024, v. 39, n. 2, p. 447, doi. 10.1007/s00467-023-06114-6
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- Article
Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.
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- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.802402
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- Article
Early neurological impairment and severe anemia in a newborn with Pearson syndrome.
- Published in:
- 2009
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- Publication type:
- journal article
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
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- 2022
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- Publication type:
- journal article
Two new cases with Pearson syndrome and review of Hacettepe experience.
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- Turkish Journal of Pediatrics, 2008, v. 50, n. 6, p. 572
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- Article
A useful method to diagnose Pearson syndrome mimicking Diamond–Blackfan anemia.
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- Pediatrics International, 2021, v. 63, n. 2, p. 223, doi. 10.1111/ped.14385
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- Article
Yenidogan doneminde pearson sendromu.
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- Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2011, v. 8, n. 2, p. 68
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- Article
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1327
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- Publication type:
- Article
Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction and Pearson Syndrome.
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- Journal of Pediatric Ophthalmology & Strabismus, 2019, v. 56, n. 6, p. e60, doi. 10.3928/01913913-20190813-01
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- Article
Juvenile Pearson Syndrome.
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- Journal of Child Neurology, 1990, v. 5, n. 3, p. 186, doi. 10.1177/088307389000500305
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- Publication type:
- Article
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
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- PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
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- Article
Mitochondrial Myopathy Rehabilitation in a Case of Pearson Syndrome.
- Published in:
- 2011
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- Publication type:
- Journal Article
P07.09: Prenatal features of an uncommon specific mitochondrial cytopathy - the Pearson syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2009, v. 34, n. S1, p. 204, doi. 10.1002/uog.7105
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- Publication type:
- Article
A case of Pearson syndrome associated with multiple renal cysts.
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- Pediatric Nephrology, 1996, v. 10, n. 5, p. 637, doi. 10.1007/s004670050178
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- Publication type:
- Article
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 195, doi. 10.1038/sj.ejhg.5200444
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- Article
Allogeneic bone marrow transplantation for Pearson's syndrome.
- Published in:
- 2007
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- Publication type:
- Letter
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.
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- European Journal of Endocrinology, 2023, v. 189, n. 5, p. 485, doi. 10.1093/ejendo/lvad137
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- 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.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1509
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- Article
Pearson marrow‐pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.
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- Annals of Noninvasive Electrocardiology, 2020, v. 25, n. 1, p. N.PAG, doi. 10.1111/anec.12681
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- Article
Pearson marrow-pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.
- Published in:
- 2019
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- Publication type:
- journal article
Corneal endothelial dysfunction in Pearson syndrome.
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- Ophthalmic Genetics, 2013, v. 34, n. 1/2, p. 55, doi. 10.3109/13816810.2011.610862
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- Article
Correspondence.
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- Indian Pediatrics, 2016, v. 53, n. 3, p. 262, doi. 10.1007/s13312-016-0833-0
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- Publication type:
- Article
Ring sideroblasts and macrocytic anemia in an infant: Clues to the diagnosis of Pearson syndrome.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30389
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- Publication type:
- Article
Pearson syndrome.
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- Expert Review of Hematology, 2018, v. 11, n. 3, p. 239, doi. 10.1080/17474086.2018.1426454
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- Article
Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.
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- Pediatric Blood & Cancer, 2021, v. 68, n. 2, p. 1, doi. 10.1002/pbc.28799
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- Article
Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.
- Published in:
- 2018
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- Publication type:
- journal article
Cutaneous zygomycosis in an infant with Pearson syndrome.
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- Pediatric Blood & Cancer, 2008, v. 50, n. 4, p. 939, doi. 10.1002/pbc.21379
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- Publication type:
- Article
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism – Correspondence.
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- 2021
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- Publication type:
- Letter
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.
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- Indian Journal of Pediatrics, 2020, v. 87, n. 12, p. 1070, doi. 10.1007/s12098-020-03333-9
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- Publication type:
- Article
Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.
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- American Journal of Hematology, 2023, v. 98, n. 12, p. E376, doi. 10.1002/ajh.27107
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- Publication type:
- Article
Pearson syndrome.
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- American Journal of Hematology, 2023, v. 98, n. 3, p. 527, doi. 10.1002/ajh.26794
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- Article
B-cell Immunodeficiency in a Patient with Pearson Syndrome.
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- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 335, doi. 10.1007/s10875-022-01406-2
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- Publication type:
- Article
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
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- Publication type:
- Article
Síndrome de Pearson. Reporte de un caso.
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- Investigación Clínica, 2011, v. 52, n. 3, p. 261
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- Publication type:
- Article
Pearson's Syndrome Presenting with Fanconi Syndrome.
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- Ultrastructural Pathology, 1996, v. 20, n. 5, p. 473, doi. 10.3109/01913129609016351
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- Publication type:
- Article