|1.||Fleming, Mark D: 5 articles (03/2014 - 10/2002)|
|2.||Campagna, Dean R: 4 articles (03/2014 - 03/2006)|
|3.||Harigae, Hideo: 3 articles (02/2015 - 10/2010)|
|4.||Kannengiesser, Caroline: 2 articles (03/2014 - 06/2011)|
|5.||Grandchamp, Bernard: 2 articles (03/2014 - 06/2011)|
|6.||Bottomley, Sylvia S: 2 articles (03/2014 - 02/2010)|
|7.||Kakhlon, Or: 2 articles (03/2010 - 12/2008)|
|8.||Cabantchik, Z Ioav: 2 articles (03/2010 - 12/2008)|
|9.||Breuer, William: 2 articles (03/2010 - 12/2008)|
|10.||Munnich, Arnold: 2 articles (03/2010 - 12/2008)|
11/01/2012 - "X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation."
01/01/2008 - "We considered that the inherited X-linked sideroblastic anemia with ataxia (XLSA/A) might be informative for the acquired disorder, RARS. "
04/15/2007 - "Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis."
03/15/2006 - "The mitochondrial ABC half-transporter Abcb7, which is mutated in X-linked sideroblastic anemia with ataxia in humans, is a functional ortholog of yeast Atm1p and is predicted to export a mitochondrially derived metabolite required for cytosolic Fe-S cluster assembly. "
06/01/2001 - "Mutations in ABC7, the human homolog of ATM1, result in X-linked sideroblastic anemia and ataxia. "
05/01/2015 - "The most common form of inherited sideroblastic anemia is X-linked sideroblastic anemia (XLSA). "
03/01/2014 - "X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. "
05/01/1985 - "Assays on nucleated bone marrow cells taken directly from patients revealed that ALAS activity was considerably reduced in idiopathic sideroblastic anemia (IASA) and X-linked sideroblastic anemia (X-SA) bone marrow specimens, whereas the activity increased more than twofold (normal levels) when cells were assayed from 8-day CFUE. "
11/01/1992 - "With the previous exclusion of close linkage between DXS14 and sideroblastic anemia with ataxia, our data show that there are at least two loci for X-linked sideroblastic anemia."
06/01/2011 - "X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. "
|3.||Friedreich Ataxia (Friedreich's Ataxia)
01/01/2007 - "The understanding of the role of mitochondrial ferritin in Fe oxidative metabolism may be useful in approaching clinical situations such as the treatment of Friedreich's ataxia, X-linked sideroblastic anemia, and in other neurodegenerative disorders."
05/01/2002 - "The genes responsible for Friedreich ataxia (FRDA) and for X-linked sideroblastic anemia with ataxia are nuclear genes that encode mitochondrial proteins. "
03/01/2010 - "Iron concentrations can rise to toxic levels in mitochondria of excitable cells, often leaving the cytosol iron-depleted, in some forms of neurodegeneration with brain accumulation (NBIA) or following mutations in genes associated with mitochondrial functions, such as ABCB7 in X-linked sideroblastic anemia with ataxia (XLSA/A) or the genes encoding frataxin in Friedreich's ataxia (FRDA). "
01/01/2003 - "Mutations in two such proteins, frataxin and ABCB7, cause Friedreich ataxia and X-linked sideroblastic anemia with ataxia, respectively, rendering other participants in this pathway functional candidates for hereditary ataxia syndromes. "
01/01/2000 - "This chapter considers the most common inherited disorder in individuals of European ancestry (hereditary hemochromatosis), a widespread disease in sub-Saharan populations for which the genetic basis is still uncertain (African dietary iron overload), and several less frequent or rare disorders (juvenile hemochromatosis, atransferrinemia, aceruloplasminemia, hyperferritinemia with autosomal dominant congenital cataract, Friedreich's ataxia, and X-linked sideroblastic anemia with ataxia)."
07/01/1999 - "Because the patient had a clear family history of anemia, he was given a diagnosis of X-linked sideroblastic anemia. "
11/01/2012 - "X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. "
06/17/2011 - "X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. "
05/01/1999 - "X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. "
07/15/1997 - "To elucidate how pyridoxine-refractory X-linked sideroblastic anemia (XLSA) develops, we analyzed the erythroid-specific 5-aminolevulinate synthase (ALAS-E) gene of a patient with the anemia. "
04/01/2004 - "Iron overload due to X-linked sideroblastic anemia in an African American man."
01/01/2008 - "X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. "
05/01/2006 - "We report the case of a man with severe X-linked sideroblastic anemia, severe iron overload, and hepatic cirrhosis who died of hepatocellular carcinoma. "
03/01/1999 - "Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis."
01/01/2004 - "Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene. "
|4.||Adenosine Triphosphate (ATP)
|8.||Mitochondrial Proteins (Mitochondrial Protein)
|10.||ATP-Binding Cassette Transporters (ABC Transporters)