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

Biochemical abnormalities in Pearson syndrome

(2015) Beatrice Letizia Crippa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

(2013) Sandra R Bacman et al.   NATURE MEDICINE

Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency

(2012) T.B. Williams et al.   MOLECULAR GENETICS AND METABOLISM

Clinical manifestations and management of four children with Pearson syndrome

(2011) Manuela Tumino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pearson Syndrome in the Neonatal Period

(2009) Elena Maria Manea et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Tubulopathy and pancytopaenia with normal pancreatic function: A variant of Pearson syndrome

(2008) Agnès Atale et al.   European Journal of Medical Genetics

Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency

(2008) Kei Murayama et al.   EUROPEAN JOURNAL OF PEDIATRICS

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

(2008) Anne-Sophie Morel et al.   EUROPEAN JOURNAL OF PEDIATRICS