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1971 2
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52 results

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Page 1
Barth syndrome.
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Clarke SL, et al. Orphanet J Rare Dis. 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. Orphanet J Rare Dis. 2013. PMID: 23398819 Free PMC article. Review.
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). ...Clinical features …
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), s …
Cyclic neutropenia.
Dale DC, Bolyard AA, Aprikyan A. Dale DC, et al. Semin Hematol. 2002 Apr;39(2):89-94. doi: 10.1053/shem.2002.31917. Semin Hematol. 2002. PMID: 11957190 Review.
Cyclic neutropenia is a rare hematologic disorder, characterized by repetitive episodes of fever, mouth ulcers, and infections attributable to recurrent severe neutropenia. ...Leukemic transformation is not a recognized risk for cyclic neutropenia, with or wi …
Cyclic neutropenia is a rare hematologic disorder, characterized by repetitive episodes of fever, mouth ulcers, and infections attrib …
Cyclical neutropenia and other periodic hematological disorders: a review of mechanisms and mathematical models.
Haurie C, Dale DC, Mackey MC. Haurie C, et al. Blood. 1998 Oct 15;92(8):2629-40. Blood. 1998. PMID: 9763544 Free article. Review.
The local regulatory mechanisms within the hematopoietic stem cells are also not well characterized at this point. Because of their dynamic character, cyclical neutropenia and other periodic hematological disorders offer a rare opportunity to more fully understand t …
The local regulatory mechanisms within the hematopoietic stem cells are also not well characterized at this point. Because of their dynamic …
Hereditary myopathies associated with hematological abnormalities.
Beecher G, Fleming MD, Liewluck T. Beecher G, et al. Muscle Nerve. 2022 Apr;65(4):374-390. doi: 10.1002/mus.27474. Epub 2022 Jan 5. Muscle Nerve. 2022. PMID: 34985130 Review.
Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4-related myopathy. Neutropenia, chronic or cyclical, with recurrent infections, infantile-to-childhood onset skeletal myopathy and cardiomyopathy are typical of Barth syndrome …
Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4-related myopathy. Neutropenia, chronic or …
Wiskott-Aldrich syndrome.
Notarangelo LD, Miao CH, Ochs HD. Notarangelo LD, et al. Curr Opin Hematol. 2008 Jan;15(1):30-6. doi: 10.1097/MOH.0b013e3282f30448. Curr Opin Hematol. 2008. PMID: 18043243 Review.
SUMMARY: Wiskott-Aldrich syndrome protein gene mutations result in four clinical phenotypes: classic Wiskott-Aldrich syndrome and X-linked thrombocytopenia, intermittent thrombocytopenia and neutropenia. Wiskott-Aldrich syndrome protein is a signaling molecule and instrume …
SUMMARY: Wiskott-Aldrich syndrome protein gene mutations result in four clinical phenotypes: classic Wiskott-Aldrich syndrome and X-linked t …
Periodic fever syndromes.
Scholl PR. Scholl PR. Curr Opin Pediatr. 2000 Dec;12(6):563-6. doi: 10.1097/00008480-200012000-00009. Curr Opin Pediatr. 2000. PMID: 11106276 Review.
The term periodic fever syndrome has been used in a restricted sense to denote two diseases in which episodic fevers occur with a regular periodicity: cyclic neutropenia and the periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome. ...
The term periodic fever syndrome has been used in a restricted sense to denote two diseases in which episodic fevers occur with a regular …
Dynamic hematological disease: a review.
Foley C, Mackey MC. Foley C, et al. J Math Biol. 2009 Jan;58(1-2):285-322. doi: 10.1007/s00285-008-0165-3. Epub 2008 Mar 4. J Math Biol. 2009. PMID: 18317766 Review.
We review the basic characteristics of four periodic hematological disorders (periodic auto-immune hemolytic anemia, cyclical thrombocytopenia, cyclical neutropenia and periodic chronic myelogenous leukemia) and examine the role that mathematical modeling and …
We review the basic characteristics of four periodic hematological disorders (periodic auto-immune hemolytic anemia, cyclical thrombo …
Cyclic neutropenia. Review of clinical manifestations and management.
Lange RD, Jones JB. Lange RD, et al. Am J Pediatr Hematol Oncol. 1981 Winter;3(4):363-7. Am J Pediatr Hematol Oncol. 1981. PMID: 7036779 Review.
Human cyclic neutropenia probably represents a rare group of heterogeneous disorders. ...Study of cyclic neutropenia may provide insight into the normal control of granulopoiesis and into the genesis of biological rhythms....
Human cyclic neutropenia probably represents a rare group of heterogeneous disorders. ...Study of cyclic neutropenia may provi …
Cyclic neutropenia: a clinical review.
Dale DC, Hammond WP 4th. Dale DC, et al. Blood Rev. 1988 Sep;2(3):178-85. doi: 10.1016/0268-960x(88)90023-9. Blood Rev. 1988. PMID: 3052663 Review.
Cyclic neutropenia is a benign, hematologic disorder characterized by recurrent episodes of severe neutropenia at 21 day intervals. ...The exact cause of cyclic neutropenia is unknown. About one third of human cases appear to be inherited in an autosomal domi …
Cyclic neutropenia is a benign, hematologic disorder characterized by recurrent episodes of severe neutropenia at 21 day inter …
Understanding and treating cytopenia through mathematical modeling.
Lei J, Mackey MC. Lei J, et al. Adv Exp Med Biol. 2014;844:279-302. doi: 10.1007/978-1-4939-2095-2_14. Adv Exp Med Biol. 2014. PMID: 25480647 Review.
Here, we briefly review how the study of dynamic hematological diseases with mathematical modeling tools has led to a better understanding of the origin of some types of neutropenia and thrombocytopenia and to improved treatment strategies. ...
Here, we briefly review how the study of dynamic hematological diseases with mathematical modeling tools has led to a better understanding o …
52 results