Pearson Syndrome: Diagnostic Challenges and a Case of Successful Haploidentical Hematopoietic Stem Cell Transplantation.

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Genotype-Phenotype Correlations in Chinese Pediatric Patients With Single Large-Scale Mitochondrial DNA Deletion Disorders.

Molecular Aspects of Mitochondrial Dysfunction in Diabetes, Pearson and Kearns-Sayre Syndromes, and Neurodegenerative Disorders.

Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia.

Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes.

Mitophagy modulation rescues single large-scale mitochondrial DNA deletion (SLSMD) disease symptoms in the C. elegans uaDf5 animal model.

Neuroimaging characteristics of single Large-Scale mitochondrial DNA deletion syndromes.

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature.

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.

Post-Transplant Course of Pearson Syndrome.

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).

Study of clinical manifestations and etiologies of megaloblastic anemia in children.

Primary adrenal insufficiency: case study IN 5 tertiary hospitals.

Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.

Congenital sideroblastic anemia with vacuolated bone marrow precursors secondary to SLC25A38 mutation-A great mimicker of Pearson syndrome.

Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study.

Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.

Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome.

Pancytopenia and haematopoietic precursor vacuolisation in an infant: Clues to Pearson syndrome.

Conduction defects in pediatric patients with Pearson syndrome: When to pace?

Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome.

Ring sideroblasts and macrocytic anemia in an infant: Clues to the diagnosis of Pearson syndrome.

Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.

Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis.

Adrenal Dysfunction in Mitochondrial Diseases.

Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes.

B-cell Immunodeficiency in a Patient with Pearson Syndrome.

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.

Pearson syndrome-like anemia induced by accumulation of mutant mtDNA and anemia with imbalanced white blood cell lineages induced by Drp1 deletion in a murine model.

Congenital etiologies of exocrine pancreatic insufficiency.

Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients.

Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion.

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.

Clinical and genetic features of four patients with Pearson syndrome: An observational study.

Preterm twins with antenatal presentation of Pearson syndrome.

Mitochondrial hepatopathy: Respiratory chain disorders- 'breathing in and out of the liver'.

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.

Pearson syndrome in a child transplanted for Diamond-Blackfan anemia.

In-depth understanding of Pearson syndrome arising from a novel large mitochondrial DNA deletion in an infant case.

Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.

Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report.

A useful method to diagnose Pearson syndrome mimicking Diamond-Blackfan anemia.

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - Correspondence.

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.

Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.

Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis.

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

Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction and Pearson Syndrome.

Pearson marrow-pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation.

[Mitochondrial DNA deletion syndrome: a case report and literature review].

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Eltrombopag Therapy in Children With Rare Disorders Associated With Thrombocytopenia.

Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.

Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.

A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome.

Endocrine Disorders in Primary Mitochondrial Disease.

Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.

Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.

Renal manifestations of primary mitochondrial disorders.

An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure.

[A regenerative anemia in infants: 2 cases of Pearson´s syndrome].

An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?

Fusarium Osteomyelitis in a Patient With Pearson Syndrome: Case Report and Review of the Literature.

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry.

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

Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).

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

Redefining phenotypes associated with mitochondrial DNA single deletion.

Biochemical abnormalities in Pearson syndrome.