Schwachman or Pearson syndrome
نویسندگان
چکیده
منابع مشابه
Pearson syndrome associated with hemophagocytic syndrome in a child.
A seven-month-old boy was admitted to a local health center with a two-week history of fever, cough, vomiting, and diarrhea. The patient was the first child of healthy, unrelated parents. Pancytopenia, increased activated partial thromboplastin time (aPTT) and international normalized ratio (INR), and acidosis were detected during local health care evaluation, and the patient was referred to ou...
متن کاملPearson syndrome in a Diamond-Blackfan anemia cohort.
In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all p...
متن کاملmtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome
BACKGROUND Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. CASE PRESENTATION We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifest...
متن کاملRevisiting Clopper-Pearson
This paper adds one more contribution to the large literature on binomial confidence intervals for small samples (e.g., Clopper and Pearson 1934; Pearson and Hartley 1954; Sterne 1954; Crow 1956; Blyth and Still 1983; Blyth 1986; Santner and Duffy 1989; Agresti and Coull 1998; Henderson and Meyer 2001). Clopper and Peason (1934) gave the first two-sided binomial confidence intervals, in graphic...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 1998
ISSN: 0361-8609,1096-8652
DOI: 10.1002/(sici)1096-8652(199803)57:3<262::aid-ajh20>3.3.co;2-8