Sara S. Cathey
AuthID: R-00H-V14
1
TITLE: Does the clinical phenotype of mucolipidosis-III gamma differ from its alpha beta counterpart?: supporting facts in a cohort of 18 patients
AUTHORS: Sheela Nampoothiri; Nursel H Elcioglu; Suleyman S Koca; Dhanya Yesodharan; Chandrababu, KK; Krishnan V Vinod; Meenakshi Bhat; Nair K Mohandas; Natasha Radhakrishnan; Mahesh Kappanayil; Jayesh J Sheth; Sandra Alves; Francisca Coutinho; Michael J Friez; Richard M Pauli; Sheila Unger; Andrea Superti Furga; Jules G Leroy; Sara S Cathey;
PUBLISHED: 2019, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 28, ISSUE: 1
AUTHORS: Sheela Nampoothiri; Nursel H Elcioglu; Suleyman S Koca; Dhanya Yesodharan; Chandrababu, KK; Krishnan V Vinod; Meenakshi Bhat; Nair K Mohandas; Natasha Radhakrishnan; Mahesh Kappanayil; Jayesh J Sheth; Sandra Alves; Francisca Coutinho; Michael J Friez; Richard M Pauli; Sheila Unger; Andrea Superti Furga; Jules G Leroy; Sara S Cathey;
PUBLISHED: 2019, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 28, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations Full Text
AUTHORS: Renata Voltolini Velho; Frederike L Harms; Tatyana Danyukova; Nataniel F Ludwig; Michael J Friez; Sara S Cathey; Mirella Filocamo; Barbara Tappino; Nilay Gunes; Beyhan Tuysuz; Karen L Tylee; Kathryn L Brammeier; Lesley Heptinstall; Esmee Oussoren; Ans T van der Ploeg; Christine Petersen; Sandra Alves; Gloria D Duran Saavedra; Ida V Schwartz; Nicole Muschol; ...More
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 7
AUTHORS: Renata Voltolini Velho; Frederike L Harms; Tatyana Danyukova; Nataniel F Ludwig; Michael J Friez; Sara S Cathey; Mirella Filocamo; Barbara Tappino; Nilay Gunes; Beyhan Tuysuz; Karen L Tylee; Kathryn L Brammeier; Lesley Heptinstall; Esmee Oussoren; Ans T van der Ploeg; Christine Petersen; Sandra Alves; Gloria D Duran Saavedra; Ida V Schwartz; Nicole Muschol; ...More
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS