Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Pearson syndrome. Case report].

Investigacion clinica - 1 Sept 2011

Cammarata-Scalisi Francisco, López-Gallardo Ester, Emperador Sonia, Ruiz-Pesini Eduardo, Da Silva Gloria, Camacho Nolis, Montoya Julio

Abstract excerpt

Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyl-CoA Dehydrogenase, Long-Chain
Share to Anemia, Sideroblastic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Congenital Bone Marrow Failure Syndromes

Share to Diarrhea, Infantile

Share to Exocrine Pancreatic Insufficiency

Share to Hypokalemia

Share to Lipid Metabolism, Inborn Errors

Share to Referral and Consultation

Source

Identifiers

PMID: 21950197

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Pearson syndrome. Case report].PMID 21950197Read ↗

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.Semantic proximity Read ↗

A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression.Semantic proximity Read ↗

[A child with persistent anaemia].Semantic proximity Read ↗

Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.Semantic proximity Read ↗

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).Semantic proximity Read ↗

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.Semantic proximity Read ↗

Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndromeSemantic proximity Read ↗

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.Semantic proximity Read ↗

[Endocrine, skin, and bone marrow involvement in mitochondrial cytopathies; a review].Semantic proximity Read ↗

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.Semantic proximity Read ↗

[The other genome: the clinical concept of mitochondrial cytopathies or disorders of pxidative phosphorylation].Semantic proximity Read ↗

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.