Maisenbacher MK - Search Results

1

Neutropenia in Barth syndrome: characteristics, risks, and management.

Steward CG, Groves SJ, Taylor CT, Maisenbacher MK, Versluys B, Newbury-Ecob RA, Ozsahin H, Damin MK, Bowen VM, McCurdy KR, Mackey MC, Bolyard AA, Dale DC. Steward CG, et al. Among authors: maisenbacher mk. Curr Opin Hematol. 2019 Jan;26(1):6-15. doi: 10.1097/MOH.0000000000000472. Curr Opin Hematol. 2019. PMID: 30451719 Free PMC article. Clinical Trial.

2

The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.

Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. Roberts AE, et al. Am J Med Genet A. 2012 Nov;158A(11):2726-32. doi: 10.1002/ajmg.a.35609. Epub 2012 Oct 8. Am J Med Genet A. 2012. PMID: 23045169

3

Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.

Spencer CT, Byrne BJ, Bryant RM, Margossian R, Maisenbacher M, Breitenger P, Benni PB, Redfearn S, Marcus E, Cade WT. Spencer CT, et al. Am J Physiol Heart Circ Physiol. 2011 Nov;301(5):H2122-9. doi: 10.1152/ajpheart.00479.2010. Epub 2011 Aug 26. Am J Physiol Heart Circ Physiol. 2011. PMID: 21873497 Free article.

4

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome.

Cade WT, Spencer CT, Reeds DN, Waggoner AD, O'Connor R, Maisenbacher M, Crowley JR, Byrne BJ, Peterson LR. Cade WT, et al. J Inherit Metab Dis. 2013 Jan;36(1):91-101. doi: 10.1007/s10545-012-9486-x. Epub 2012 May 12. J Inherit Metab Dis. 2013. PMID: 22580961 Free PMC article.

5

Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion.

Kao A, Mariani J, McDonald-McGinn DM, Maisenbacher MK, Brooks-Kayal AR, Zackai EH, Lynch DR. Kao A, et al. Among authors: maisenbacher mk. Am J Med Genet A. 2004 Aug 15;129A(1):29-34. doi: 10.1002/ajmg.a.30133. Am J Med Genet A. 2004. PMID: 15266612

6

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH. McDonald-McGinn DM, et al. Among authors: maisenbacher mk. Am J Med Genet A. 2005 Aug 1;136A(4):358-62. doi: 10.1002/ajmg.a.30746. Am J Med Genet A. 2005. PMID: 16001439

7

Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome.

Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, McDonald-McGinn DM, Zackai EH, Drummond DS. Ricchetti ET, et al. J Bone Joint Surg Am. 2004 Aug;86(8):1751-60. doi: 10.2106/00004623-200408000-00020. J Bone Joint Surg Am. 2004. PMID: 15292424

8

Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.

Deardorff MA, Maisenbacher M, Zackai EH. Deardorff MA, et al. Am J Med Genet A. 2004 Nov 1;130A(4):393-4. doi: 10.1002/ajmg.a.30032. Am J Med Genet A. 2004. PMID: 15455365

9

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA. Gallione C, et al. Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206. Am J Med Genet A. 2010. PMID: 20101697

10

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet.

Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA. Dagli AI, et al. Among authors: maisenbacher mk. J Inherit Metab Dis. 2009 Dec;32 Suppl 1(0 1):S103-6. doi: 10.1007/s10545-009-1088-x. Epub 2009 Mar 30. J Inherit Metab Dis. 2009. PMID: 19322675 Free PMC article.

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