Schwannoma with Focal Malignant Transformation (MPNST) - A Rare Case Report by Vaishnavi Selvaraju, Yamini PM, Jaya Ganesh

Get full text

A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection by Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh

Get full text

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genom... by Monica Penon-Portmann, Sheri A. Poskanzer, Jaya Ganesh, Irene Chang

Get full text

Elivaldogene autotemcel approved for treatment of cerebral adrenoleukodystrophy (CALD) in males: A therapeutics bulletin of the American College of Medical Genetics and Genomics (A... by Anna I. Scott, Kanwaldeep K. Mallhi, Jaya Ganesh, Wei-Liang Chen

Get full text

Relevance of Mediterranean diet as a nutritional strategy in diminishing COVID-19 risk: A systematic review by Ceria Halim, Miranda Howen, Athirah Amirah Nabilah binti Fitrisubroto, Timotius Pratama, Indah Ramadhani Harahap, Lacman Jaya Ganesh, Andre Marolop Pangihutan Siahaan

Get full text

PPA2 Deficiency in 2 Sisters by Will Genthe, MS, Colleen Donnelly, MS, David Ezon, MD, Veronica Fettig, MS, Jaya Ganesh, MD, Isaac Marin-Valecia, MD, Bruce D. Gelb, MD

Get full text

P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial by Can Ficicioglu, Jaya Ganesh, Wendy Smith, Melissa Lah, David Kudrow, Jalé Güner, Sharon McDermott, Sagar Vaidya, Liz Wilkening, Janet Thomas, Harvey Levy

Get full text

P1483: LONG-TERM IMPACT OF OLIPUDASE ALFA ENZYME REPLACEMENT THERAPY ON SPLEEN VOLUME AND HEMATOLOGIC MANIFESTATIONS IN CHILDREN AND ADULTS WITH CHRONIC ACID SPHINGOMYELINASE DEFIC... by Jesus Villarrubia, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa Wasserstein, Nicole Armstrong, Gasparic Maja, Yong Kim, Holly Wong, Abhimanyu Yarramaneni

Get full text

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency by Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten

Get full text

ScreenPlus: A comprehensive, multi-disorder newborn screening program by Nicole R. Kelly, Joseph J. Orsini, Aaron J. Goldenberg, Niamh S. Mulrooney, Natalie A. Boychuk, Megan J. Clarke, Katrina Paleologos, Monica M. Martin, Hannah McNeight, Michele Caggana, Sean M. Bailey, Lisa R. Eiland, Jaya Ganesh, Gabriel Kupchik, Rishi Lumba, Suhas Nafday, Annemarie Stroustrup, Michael H. Gelb, Melissa P. Wasserstein

Get full text