Eli Herskovitz

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns

Rachel Rock, Oded Rock, Suha Daas, Vered Biton‐Regev et autres

Newborn screening (NBS) for isovaleric acidemia (IVA) reduces mortality and morbidity; however, it has also resulted in the detection of individuals with an asymptomatic or mild presentation for which early detection via newborn screening has not been proven to alter neurological outcome. …

il (code pays fourni par la source)

Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes

Elad Jacoby, Omer Bar‐Yosef, Noah Gruber, Einat Lahav et autres

Patients with single large-scale mitochondrial DNA (mtDNA) deletion syndromes (SLSMDs) usually present with multisystemic disease, either as Pearson syndrome in early childhood or as Kearns-Sayre syndrome later in life. No disease-modifying therapies exist for SLSMDs. We have developed a method to enrich …

il (code pays fourni par la source)

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, Robert Bradley Troxler et autres

BACKGROUND: Cross-reactive immunological material-negative (CRIM-negative) infantile Pompe disease (IPD) patients develop an immune response against enzyme replacement therapy (ERT) with alglucosidase alfa that nullifies ERT efficacy. Prophylactic immune tolerance induction (ITI) with rituximab, methotrexate, and IVIG successfully prevents development of deleterious rhGAA …

us, il, ca (code pays fourni par la source)

Treatment Outcome of Pompe Disease Infants with Negative Cross-Reactive Immunologic Material From Israel and Gaza

Hanna Mandel, Deeksha Sarihyan Bali, Priya Sunil Kishnani, Gad Bar‐Joseph et autres

us, il (code pays fourni par la source)