نتائج البحث - Jessica Cohen‐Pfeffer
- يعرض 1 - 9 نتائج من 9
-
1
-
2
-
3
-
4
-
5
-
6
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte حسب James D. Weisfeld‐Adams, Mark A. Morrissey, Brian Kirmse, Bobbie R. Salveson, Melissa Wasserstein, Peter J. McGuire, Sherlykutty Sunny, Jessica Cohen‐Pfeffer, Chunli Yu, Michele Caggana, George A. Díaz
منشور في 2009Artigo -
7
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study حسب Angela Schulz, Nicola Specchio, Emily de los Reyes, Paul Gissen, Miriam Nickel, Marina Trivisano, Shawn C. Aylward, Anupam Chakrapani, Christoph Schwering, Eva Wibbeler, Lena Marie Westermann, Douglas Ballon, Jonathan P. Dyke, Anu Cherukuri, Shailesh Bondade, Peter Slasor, Jessica Cohen Pfeffer
منشور في 2023Artigo -
8
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis حسب Michael Fietz, Moeenaldeen AlSayed, Derek Burke, Jessica Cohen‐Pfeffer, Jonathan D. Cooper, Lenka Dvořáková, Roberto Giugliani, Emanuela Izzo, Helena Jahnová, Zoltán Lukács, Sara Mole, Inés Noher de Halac, David A. Pearce, Helena Poupětová, Angela Schulz, Nicola Specchio, Winnie Xin, Nicole L. Miller
منشور في 2016Artigo -
9
Management Strategies for CLN2 Disease حسب Ruth Williams, Heather Adams, Martin Blohm, Jessica Cohen‐Pfeffer, Emily de los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A. Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W. Mink, Miriam Nickel, Renée Shediac, Katherine B. Sims, Nicola Specchio, Meral Topçu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz
منشور في 2017Revisão
أدوات البحث:
موضوعات ذات صلة
Medicine
Internal medicine
Pediatrics
Chemistry
Disease
Drug
Intensive care medicine
Pharmacology
Psychiatry
Adverse effect
Central nervous system
Drug delivery
Environmental health
Enzyme replacement therapy
Nursing
Organic chemistry
Pathology
Population
Sociology
Amino acid
Anesthesia
Anxiety
Ataxia
Batten disease
Biochemistry
Blood management
Blood transfusion
Blood–brain barrier
Clinical endpoint
Clinical trial