| Myeloid dysplasia in familial 3-methylglutaconic aciduria. | |
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MedLine Citation:
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PMID: 16462576 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A kindred is reported with four members affected with neurodegenerative disorder and 3-methylglutaconic aciduria. Two siblings developed thrombocytopenia heralding a myelodysplastic syndrome; in one patient it evolved into acute myeloid leukemia with monosomy 7 in the marrow. The hematologic complications have hitherto not been previously reported in other cases of 3-methylglutaconic aciduria and are thus thought to represent a new disease entity. This family adds additional evidence to the genetic heterogeneity of Mendelian disorders in which the primary mutation may have a mutator effect that could give origin to myelodysplastic syndrome and acute myeloid leukemia through acquired chromosomal changes. |
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Authors:
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Motti Haimi; Ronit Elhasid; Ruth Gershoni-Baruch; Shai Izraeli; Ronald J A Wanders; Hanna Mandel |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: 28 ISSN: 1077-4114 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2006 Feb |
Date Detail:
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Created Date: 2006-02-07 Completed Date: 2006-03-31 Revised Date: 2011-10-06 |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: United States |
Other Details:
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Languages: eng Pagination: 69-72 Citation Subset: IM |
Affiliation:
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Department of Pediatric Hemato-Oncology, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Chromosomes, Human, Pair 7 / genetics Consanguinity Ethnic Groups / genetics Female Glutarates / urine* Humans Infant Israel Leukemia, Myeloid, Acute / genetics Male Mental Retardation / genetics Metabolism, Inborn Errors / complications*, urine Monosomy Myelodysplastic Syndromes / genetics* Pedigree Thrombocytopenia / genetics |
| Chemical | |
Reg. No./Substance:
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0/Glutarates; 5746-90-7/3-methylglutaconic acid |
| Comments/Corrections | |
Comment In:
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J Pediatr Hematol Oncol. 2006 Feb;28(2):62-3
[PMID:
16462574
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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