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Author Austin S |
Available item(s) by this author (19)
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Paschall A ; Khan AA ; Enam SF ; Boggs T ; Hijazi G ; Bowling M ; Austin S ; Case LE ; Kishnani P | United States | 09/10/2021Article
Young SP ; Khan A ; Stefanescu E ; Seifts AM ; Hijazi G ; Austin S ; Kishnani PS | 03/11/2020Article
Fernandes SA ; Khan AA ; Boggs T ; Bowling M ; Austin S ; Stefanescu M ; Case L ; Kishnani PS | 14/10/2020Article
Harfouche M ; Kishnani PS ; Krusinska E ; Gault J ; Sitaraman S ; Sowinski A ; Katz I ; Austin S ; Goldstein M ; Mulberg AE | 09/10/2020Article
Khan AA, Author ; Boggs T ; Bowling M ; Austin S ; Stefanescu M ; Case L ; Kishnani PS | United States | 11/2019Article
Halaby CA, Author ; Young SP ; Austin S ; Stefanescu E ; Bali D ; Clinton LK ; Smith B ; Pendyal S ; Upadia J ; Schooler GR ; Mavis AM ; Kishnani PS | United States | 07/2019Article
Herbert M ; Goldstein JL ; Rehder C ; Austin S ; Kishnani PS ; Bali DS | 01/11/2018Initial Posting: May 31, 2011; Last Update: November 1, 2018. Clinical characteristics. Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, whi[...]Article
McIntosh PT, Author ; Hobson-Webb LD ; Kazi ZB ; Prater SN ; Banugaria SG ; Austin S ; Wang R ; Enterline DS ; Frush DP ; Kishnani PS | 2018Article
McIntosh P, Author ; Austin S ; Sullivan J ; Bailey L ; Bailey C ; Viskochil D ; Kishnani PS | 2017Article
Yi H, Author ; Sun T ; Armstrong D ; Borneman S ; Yang C ; Austin S ; Kishnani PS ; Sun B | 2017Article
Chan J, Author ; Desai AK ; Kazi ZB ; Corey K ; Austin S ; Hobson-Webb LD ; Case LE ; Jones HN ; Kishnani PS | 2017Article
Spiridigliozzi GA, Author ; Keeling LA ; Stefanescu M ; Li C ; Austin S ; Kishnani PS | 2017Article
Levesque S, Author ; Auray-Blais C ; Gravel E ; Boutin M ; Dempsey-Nunez L ; Jacques PE ; Chenier S ; Larue S ; Rioux MF ; Al-Hertani W ; Nadeau A ; Mathieu J ; Maranda B ; Desilets V ; Waters PJ ; Keutzer J ; Austin S ; Kishnani P | 2016Article
Koeberl DD ; Austin S ; Case LE ; Smith EC ; Buckley AF ; Young SP ; Bali D ; Kishnani PS | 2014Article
Carlier RY ; Mongini T ; Vissing J ; van der Maarel S ; Reuser A ; Austin S ; Kishnani P ; Schoser B ; Gast U ; Plöckinger U ; Straub V ; Raben N | 2013Meeting abstracts : 01-Autophagy: the pathogenic agent in muscle damage. 02-Advances in imaging for the diagnosis and disease monitoring of Pompe disease. 03-Genotype-phenotype: correlations and emerging spectrum. 04-Diagnostic algorithm and cas[...]Article
Javan R ; Horvath JJ ; Case LE ; Austin S ; Corderi J ; Dubrovsky A ; Kishnani PS ; Bashir MR | 2013Accès au résumé Pubmed/to pubmed abstract