CareLit · DOI-Nachweis · Klinische Pädiatrie
Prenatal manifestation of pancytopenia in Pearson Marrow-Pancreas Syndrome
DOI 10.1055/s-2004-828565
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Autor:innenA Giese, L Wronski, K Blümchen, R Kirschner-Schwabe, S Shalapour, K Hasse, C Eckert, M Schülke, G Henze, K Seeger
ZeitschriftKlinische Pädiatrie
Ausgabe05/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Pearson marrow-pancreas syndrome is a fatal disease characterized by refractory sideroblastic anemia with vacuolization of marrow precursors, dysfunction of the exocrine pancreas and severe lactic acidosis, caused by mitochondrial DNA (mtDNA) deletions and duplications. We report on a male neonate in whom pancytopenia was already diagnosed prenatally by ultrasound (cerebral blood flow). He exhibited severe metabolic…
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Zitierempfehlung
A Giese, L Wronski, K Blümchen, R Kirschner-Schwabe, S Shalapour, K Hasse, C Eckert, M Schülke, G Henze, K Seeger (2004) Prenatal manifestation of pancytopenia in Pearson Marrow-Pancreas Syndrome. Klinische Pädiatrie (05). https://doi.org/10.1055/s-2004-828565
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