Patricia Borde

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

J.G. Loeber, Dimitris Platis, Rolf Zetterström et al. · International Journal of Neonatal Screening · 2021 · 221 citations · Full text

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7

Biomarkers for Early Diagnosis of Hemophagocytic Lymphohistiocytosis in Critically Ill Patients

France Debaugnies, Bhavna Mahadeb, Carole Nagant et al. · Journal of Clinical Immunology · 2021 · 40 citations · Full text

Critically Ill Patients, Early Diagnosis, Prognostic Biomarkers +9

Regulatory landscape of providing information on newborn screening to parents across Europe

Věra Franková, Riona O. Driscoll, Marleen E. Jansen et al. · European Journal of Human Genetics · 2020 · 21 citations · Full text

Early Diagnosis, Regulatory Landscape, Newborn Screening +10

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

Emmanuel Scalais, Elise Osterheld, Christine Geron et al. · JIMD Reports · 2019 · 12 citations · Full text

Cbla Patient, Translational Medicine, Medicine +13