|1|A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression. (26016877)
Chen X.Y.... Wu Y.M.
|2|A Novel Mitochondrial DNA Deletion in a Patient with Pearson Syndrome and Neonatal Diabetes Mellitus Provides Insight into Disease Etiology, Severity and Progression. (26518169)
Chen X.Y.... Wu Y.M.
|3|Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). (26238250)
Farruggia P.... Pillon M.
|4|Biochemical abnormalities in Pearson syndrome. (25691415)
Crippa B.L.... Longo N.
|5|Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report. (25543536)
Park J.... Suh B.K.
|6|Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome. (24633981)
Baertling F.... Distelmaier F.
|7|Pearson syndrome in a Diamond-Blackfan anemia cohort. (25035146)
|8|Corneal endothelial dysfunction in Pearson syndrome. (21936618)
Kasbekar S.A.... Willoughby C.E.
|9|Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. (22424738)
Williams T.B.... Abdenur J.E.
|10|A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. (21741369)
Ayed I.B.... Fakhfakh F.
|11|Clinical manifestations and management of four children with Pearson syndrome. (22012855)
Tumino M.... Di Cataldo A.
|12|Celiac disease in siblings with Pearson syndrome. (20228667)
KAPklA1 S.... KoAsak E.
|13|Early neurological impairment and severe anemia in a newborn with Pearson syndrome. (18553104)
Morel A.S.... Tolsa J.F.
|14|Pearson syndrome in the neonatal period: two case reports and review of the literature. (19881395)
Manea E.M.... Munnich A.
|15|Transient corneal edema and left hemisphere dysfunction in pearson syndrome. (19491648)
Momont A.C.... Trobe J.D.
|16|Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (19026771)
Atale A.... Faivre L.
|17|Cutaneous zygomycosis in an infant with Pearson syndrome. (17914738)
Kefala-Agoropoulou K.... Velegraki A.
|18|Pearson syndrome associated with hemophagocytic syndrome in a child. (27264153)
GA1mrA1k F.... CoA9kun T.
|19|Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. (17852457)
Kefala-Agoropoulou K.... Tsiouris J.
|20|The neurological evolution of Pearson syndrome: case report and literature review. (17434771)
Lee H.F.... Wang C.J.
|21|Parafoveolar intraretinal crystals in pearson syndrome. (25390989)
Maguluri S.... Recchia F.M.
|22|A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. (16435219)
Lohi O.... Arola M.
|23|Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. (16278899)
Munakata K.... Tanaka M.
|24|Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (14970745)
Jacobs L.J.... Smeets H.J.
|25|Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. (14663277)
Knerr I.... Repp R.
|26|Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (12152148)
Shanske S.... DiMauro S.
|27|Clinical implications of duplicated mtDNA in Pearson syndrome. (11169556)
Muraki K.... Goto Y.
|28|Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
Lacbawan F.... Wong L.J.
|29|Early onset of complete heart block in Pearson syndrome. (11117437)
Rahman S.... Leonard J.V.
|30|Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (10030587)
|31|Invasive aspergillosis in two patients with Pearson syndrome. (10462353)
Warris A.... Meis J.F.
|32|Fatal acidosis in a neonate with Pearson syndrome. (10770098)
GA1rakan B.... Demirhan B.
|33|Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (9467460)
Cursiefen C.... Naumann G.O.
|34|Schwachman or Pearson syndrome. (9495386)
|35|Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. (9630077)
TA^th T.... Papp Z.
|36|The association between haematological manifestation and mtDNA deletions in Pearson syndrome. (9323565)
Muraki K.... Ueda K.
|37|Severe lactic acidosis and neonatal death in Pearson syndrome. (9061566)
Muraki K.... Ueda K.
|38|Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. (8909450)
Santorelli F.M.... DiMauro S.
|39|A case of Pearson syndrome associated with multiple renal cysts. (8897573)
GA1rgey A.... Bakkaloglu A.
|40|Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. (7541513)
RAPtig A.... Munnich A.
|41|A novel mtDNA deletion in an infant with Pearson syndrome. (7837757)
Kapsa R.... Blok R.B.
|42|Deletion of the mitochondrial DNA in a case of de Toni-DebrAc-Fanconi syndrome and Pearson syndrome. (8018492)
Niaudet P.... RAPtig A.
|43|3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
Lichter-Konecki U.... Bremer H.J.
|44|Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. (7609446)
Ribes A.... Jakobs C.
|45|Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay. (1405463)
de Vries D.D.... van Oost B.A.
|46|Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. (1405465)
Baerlocher K.E.... RAPtig A.
|47|3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
Gibson K.M.... Trefz F.K.
|48|Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (1985462)
McShane M.A.... Harding A.E.
|49|Organic aciduria in Pearson syndrome. (1915526)
Jakobs C.... Veerman A.J.
|50|Juvenile Pearson syndrome. (2398232)
Blaw M.E.... Mize C.E.