Organic aciduria in Pearson syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/BF02072635.pdf
Reference4 articles.
1. Cornier V, Rotig A, Quartino AR, Forni GL, Cerone R, Maier M, Saudubray JM, Munnich A (1990) Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. J Pediatr 117:599–602
2. Pearson HA, Lobel JS, Kocoshis SA, Naiman JL, Windmiller J, Lammi AT, Hoffman R (1979) A new syndrome of refractory sideroblastic anemia with yacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976–984
3. Rötig A, Colonna M, Bonnefont JP, Blanche S, Fischer A, Saudubray JM, Munnich A (1989) Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome. Lancet I:902–903
4. Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, Munnich A (1990) Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 86:1601–1608
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1. The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders;Clinica Chimica Acta;2018-06
2. 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;European Journal of Pediatrics;2015-06-16
3. 3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients;Journal of Inherited Metabolic Disease;2013-01-25
4. The 3-methylglutaconic acidurias: what’s new?;Journal of Inherited Metabolic Disease;2010-09-30
5. Pearson Syndrome in the Neonatal Period;Journal of Pediatric Hematology/Oncology;2009-12
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