Literature DB >> 23401069

Basilar artery aneurysm: a new finding in classic infantile Pompe disease.

Trusha T Patel, Suhrad G Banugaria, Donald P Frush, David S Enterline, Pranoot Tanpaiboon, Priya S Kishnani.   

Abstract

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Year:  2013        PMID： 23401069      PMCID： PMC7872031          DOI： 10.1002/mus.23659

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  7 in total

1.  Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

Authors:  Areeg H El-Gharbawy; Gifty Bhat; Jaime E Murillo; Beth L Thurberg; Christoph Kampmann; Karl-Eugen Mengel; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2011-05-05       Impact factor: 4.797

2.  Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.

Authors:  Hiroshi Kobayashi; Yohta Shimada; Masahiro Ikegami; Toshinao Kawai; Ken Sakurai; Takashi Urashima; Masatoshi Ijima; Masako Fujiwara; Eiko Kaneshiro; Toya Ohashi; Yoshikatsu Eto; Keiko Ishigaki; Makiko Osawa; Sandra Obikawa Kyosen; Hiroyuki Ida
Journal:  Mol Genet Metab       Date:  2010-02-04       Impact factor: 4.797

3.  Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship.

Authors:  M M Makos; R D McComb; M N Hart; D R Bennett
Journal:  Ann Neurol       Date:  1987-11       Impact factor: 10.422

4.  Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

Authors:  Sabrina Sacconi; Jonathan D Bocquet; Stéphane Chanalet; Véronique Tanant; Leonardo Salviati; Claude Desnuelle
Journal:  J Neurol       Date:  2010-06-18       Impact factor: 4.849

5.  Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.

Authors:  Beth L Thurberg; Colleen Lynch Maloney; Charles Vaccaro; Kendra Afonso; Anne Chun-Hui Tsai; Edward Bossen; Priya S Kishnani; Michael O'Callaghan
Journal:  Lab Invest       Date:  2006-10-30       Impact factor: 5.662

6.  Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

Authors:  P Laforêt; P Petiot; M Nicolino; D Orlikowski; C Caillaud; N Pellegrini; R Froissart; T Petitjean; I Maire; H Chabriat; L Hadrane; D Annane; B Eymard
Journal:  Neurology       Date:  2008-05-27       Impact factor: 9.910

7.  The emerging phenotype of long-term survivors with infantile Pompe disease.

Authors:  Sean N Prater; Suhrad G Banugaria; Stephanie M DeArmey; Eleanor G Botha; Erin M Stege; Laura E Case; Harrison N Jones; Chanika Phornphutkul; Raymond Y Wang; Sarah P Young; Priya S Kishnani
Journal:  Genet Med       Date:  2012-04-26       Impact factor: 8.822
  7 in total
  4 in total

1.  Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Authors:  Loren D M Pena; Alan D Proia; Priya S Kishnani
Journal:  JIMD Rep       Date:  2015-03-13

Review 2.  An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Authors:  Aditi Korlimarla; Jeong-A Lim; Priya S Kishnani; Baodong Sun
Journal:  Ann Transl Med       Date:  2019-07

Review 3.  Pompe disease: literature review and case series.

Authors:  Majed Dasouki; Omar Jawdat; Osama Almadhoun; Mamatha Pasnoor; April L McVey; Ahmad Abuzinadah; Laura Herbelin; Richard J Barohn; Mazen M Dimachkie
Journal:  Neurol Clin       Date:  2014-08       Impact factor: 3.806

4.  Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

Authors:  Paul T McIntosh; Lisa D Hobson-Webb; Zoheb B Kazi; Sean N Prater; Suhrad G Banugaria; Stephanie Austin; Raymond Wang; David S Enterline; Donald P Frush; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2017-10-13       Impact factor: 4.797
  4 in total

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