Søgeresultater - Zoltán Lukács
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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency af Margaret M. McGovern, Carlo Dionisi‐Vici, Roberto Giugliani, Wuh‐Liang Hwu, Olivier Lidove, Zoltán Lukács, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Melissa Wasserstein
Udgivet 2017Revisão -
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Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) af Melissa Wasserstein, Carlo Dionisi‐Vici, Roberto Giugliani, Wuh‐Liang Hwu, Olivier Lidove, Zoltán Lukács, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Margaret M. McGovern
Udgivet 2018Revisão -
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Consensus recommendation on a diagnostic guideline for acid sphingomyelinase deficiency af Melissa Wasserstein, Carlo Dionisi‐Vici, Roberto Giugliani, Paul Wuh-Liang Hwu, Olivier Lidove, Zoltán Lukács, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Margaret M. McGovern
Udgivet 2017Artigo -
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Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness af Zoltán Lukács, Paulina Nieves Cobos, Stephan Wenninger, Tracey Willis, Michela Guglieri, Marc Roberts, Rosaline C. M. Quinlivan, David Hilton‐Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter‐Weigel, Maggie C. Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller‐Felber, Benedikt Schoser
Udgivet 2016Artigo -
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis af 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
Udgivet 2016Artigo -
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Diagnosing mucopolysaccharidosis IVA af Timothy C. Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin‐Hsiu Chien, Heather J. Church, Vânia D’Almeida, Otto P. van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M. Hawley, Wuh‐Liang Hwu, David Ketteridge, Zoltán Lukács, Nicole L. Miller, Marzia Pasquali, Andrea Schenone, Jerry N. Thompson, Karen Tylee, Chunli Yu, Christian J. Hendriksz
Udgivet 2013Artigo
Søgeredskaber:
Relaterede emner
Medicine
Biochemistry
Biology
Internal medicine
Pathology
Chemistry
Disease
Gene
Acid sphingomyelinase
Cholesterol
Chromatography
Dried blood spot
Enzyme
Enzyme replacement therapy
Genetics
Guideline
Pediatrics
Sphingomyelin
Amino acid
Antibody
Arginase
Arginine
Asymmetric dimethylarginine
Ataxia
Batten disease
Citrulline
Cohort
Computer science
Database
Dementia