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127 results for Glycogen+Storage+Disease+Type+II+-+diagnosis

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Precision newborn screening for lysosomal disorders
Author / Creator:Minter Baerg, Melissa M ; Stoway, Stephanie D ; Hart, Jeremy ; Mott, Lea ; Peck, Dawn S ; Nett, Stephanie L ; Eckerman, Jason S ; Lacey, Jean M ; Turgeon, Coleman T ; Gavrilov, Dimitar ; Oglesbee, Devin ; Raymond, Kimiyo ; Tortorelli, Silvia ; Matern, Dietrich ; Mørkrid, Lars ; Rinaldo, Piero
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-08, Vol.20 (8), p.847-854
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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induct...
Author / Creator:Li, Cindy ; Desai, Ankit K. ; Gupta, Punita ; Dempsey, Katherine ; Bhambhani, Vikas ; Hopkin, Robert J. ; Ficicioglu, Can ; Tanpaiboon, Pranoot ; Craigen, William J. ; Rosenberg, Amy S. ; Kishnani, Priya S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-05, Vol.23 (5), p.845-855
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Pompe's disease
Author / Creator:van der Ploeg, Ans T, Dr ; Reuser, Arnold JJ, PhD
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2008-10, Vol.372 (9646), p.1342-1353
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Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
Author / Creator:Mechtler, Thomas P, MD ; Stary, Susanne, PhD ; Metz, Thomas F, MSc ; De Jesús, Víctor R, PhD ; Greber-Platzer, Susanne, MD ; Pollak, Arnold, Prof ; Herkner, Kurt R, PhD ; Streubel, Berthold, Prof ; Kasper, David C, PhD
Publisher:Kidlington: Elsevier Ltd
Journal title:The Lancet (British edition), 2012-01, Vol.379 (9813), p.335-341
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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Author / Creator:Parenti, Giancarlo ; Fecarotta, Simona ; Alagia, Marianna ; Attaianese, Federica ; Verde, Alessandra ; Tarallo, Antonietta ; Gragnaniello, Vincenza ; Ziagaki, Athanasia ; Guimaraes, Maria Jose’ ; Aguiar, Patricio ; Hahn, Andreas ; Azevedo, Olga ; Donati, Maria Alice ; Kiec-Wilk, Beata ; Scarpa, Maurizio ; van der Beek, Nadine A. M. E. ; Del Toro Riera, Mireja ; Germain, Dominique P. ; Huidekoper, Hidde ; van den Hout, Johanna M. P. ; van der Ploeg, Ans T. ; Baric, Ivo ; Batzios, Spyros ; Belmatoug, Nadia ; Bordugo, Andrea ; Bosch, Annet M. ; Brassier, Anais ; Burlina, Alberto ; Cassiman, David ; Chabrol, Brigitte ; Chronopoulou, Efstathia ; Couce-Pico, Maria Luz ; Darin, Niklas ; Das, Anibh M. ; Debray, Francois G. ; Deegan, Patrick ; de Abreu Freire Diogo Matos, Luisa M. ; De Las Heras Montero, Javier ; Di Rocco, Maja ; Dobbelaere, Dries ; Eyskens, Francois ; Ferreira, Ana ; Gaspar, Ana M. ; Gasperini, Serena ; López, Antonio González-Meneses ; Grosso, Salvatore ; Guffon-Fouilhoux, Nathalie ; Hennermann, Julia ; Hiwot, Tarekegn G. ; Jones, Simon ; Kingma, Sandra ; Komninaka, Veroniki ; Martín-Hernández, Elena ; Martins, Esmeralda ; Miclea, Diana ; Pfliegler, György ; Rodrigues, Esmeralda ; Rokicki, Dariusz ; Roland, Dominique ; Rutsch, Frank ; Salviati, Alessandro ; Tournev, Ivailo ; Ullrich, Kurt ; van Hasselt, Peter M. ; Vijay, Suresh ; Weinhold, Natalie ; Witters, Peter ; Zeman, Jiri
Publisher:England: BMC
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.408-23, Article 408
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Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey
Author / Creator:Blöß, Susanne ; Klemann, Christian ; Rother, Ann-Katrin ; Mehmecke, Sandra ; Schumacher, Ulrike ; Mücke, Urs ; Mücke, Martin ; Stieber, Christiane ; Klawonn, Frank ; Kortum, Xiaowei ; Lechner, Werner ; Grigull, Lorenz
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-02, Vol.12 (2), p.e0172532-e0172532
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Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
Author / Creator:Yang, Chia-Feng ; Liao, Ting-Wei Ernie ; Chu, Yen-Ling ; Chen, Li-Zhen ; Huang, Ling-Yi ; Yang, Tsui-Feng ; Ho, Hui-Chen ; Kao, Shu-Min ; Niu, Dau-Ming
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-05, Vol.60 (5), p.430-439
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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale
Author / Creator:Kooten, Harmke A. ; Horton, Mike C. ; Wenninger, Stephan ; Babačić, Haris ; Schoser, Benedikt ; Lefeuvre, Claire ; Taouagh, Najib ; Laforêt, Pascal ; Segovia, Sonia ; Díaz‐Manera, Jordi ; Claeys, Kristl G. ; Mongini, Tiziana ; Musumeci, Olimpia ; Toscano, Antonio ; Hundsberger, Thomas ; Brusse, Esther ; Doorn, Pieter A. ; Ploeg, Ans T. ; Beek, Nadine A. M. E. ; Kooten, H. A ; Brusse, E. ; Doorn, P. A ; Ploeg, A. T. ; Beek, N. A. M. E. ; Wenninger, S. ; Babačić, H. ; Schoser, B. ; Montagnese, F. ; Gracia Angarita, N. ; Lefeuvre, C. ; Taouagh, N. ; Laforêt, P. ; Béhin, A. ; Tard, C. ; Campana‐Salort, E. ; Sacconi, S. ; Solé, G. ; Spinazzi, M. ; Bouhour, F. ; Bouibede, F. ; Hamroun, D. ; Hogrel, J. Y. ; Segovia, S. ; Díaz‐Manera, J. ; Claeys, K.G. ; Mongini, T. ; Musumeci, O. ; Toscano, A. ; Hundsberger, T. ; Horton, M. C.
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-12, Vol.31 (12), p.e16397-n/a
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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
Author / Creator:Stockton, David W. ; Kishnani, Priya ; van der Ploeg, Ans ; Llerena, Juan ; Boentert, Matthias ; Roberts, Mark ; Byrne, Barry J. ; Araujo, Roberto ; Maruti, Sonia S. ; Thibault, Nathan ; Verhulst, Karien ; Berger, Kenneth I.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2020-10, Vol.267 (10), p.3038-3053
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Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel
Author / Creator:Tarnopolsky, Mark ; Katzberg, Hans ; Petrof, Basil J. ; Sirrs, Sandra ; Sarnat, Harvey B. ; Myers, Kimberley ; Dupré, Nicolas ; Dodig, Dubravka ; Genge, Angela ; Venance, Shannon L. ; Korngut, Lawrence ; Raiman, Julian ; Khan, Aneal
Publisher:New York, USA: Cambridge University Press
Journal title:Canadian journal of neurological sciences, 2016-07, Vol.43 (4), p.472-485
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Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Author / Creator:Tortorelli, Silvia ; Eckerman, Jason S ; Orsini, Joseph J ; Stevens, Colleen ; Hart, Jeremy ; Hall, Patricia L ; Alexander, John J ; Gavrilov, Dimitar ; Oglesbee, Devin ; Raymond, Kimiyo ; Matern, Dietrich ; Rinaldo, Piero
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-08, Vol.20 (8), p.840-846
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Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review
Author / Creator:Giugliani, Roberto ; Solomon, Faryn ; Kushlaf, Hani ; Wright, Erica ; Haselkorn, Tmirah ; Zanoteli, Edmar ; Schoser, Benedikt
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-05, Vol.20 (1), p.216-9, Article 216
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Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease
Author / Creator:Balendran-Braun, Sukirthini ; Vinatzer, Ursula ; Liebmann-Reindl, Sandra ; Lux, Manuela ; Oliva, Petra ; Sansen, Stefaan ; Mechtler, Thomas ; Kasper, David C. ; Streubel, Berthold
Publisher:United States: John Wiley & Sons, Inc
Journal title:Human mutation, 2024, Vol.2024 (1), p.6248437
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microRNAs as biomarkers in Pompe disease
Author / Creator:Tarallo, Antonietta ; Carissimo, Annamaria ; Gatto, Francesca ; Nusco, Edoardo ; Toscano, Antonio ; Musumeci, Olimpia ; Coletta, Marcella ; Karali, Marianthi ; Acampora, Emma ; Damiano, Carla ; Minopoli, Nadia ; Fecarotta, Simona ; Della Casa, Roberto ; Mongini, Tiziana ; Vercelli, Liliana ; Santoro, Lucio ; Ruggiero, Lucia ; Deodato, Federica ; Taurisano, Roberta ; Bembi, Bruno ; Dardis, Andrea ; Banfi, Sandro ; Pijnappel, WW Pim ; van der Ploeg, Ans T ; Parenti, Giancarlo
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.591-600
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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)
Author / Creator:Laney, Dawn A. ; Banks, Kayla A. ; Botha, Eleanor G. ; Keever, Maria ; Long, Valynne ; Foley, Allison L.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1), p.23-8, Article 23
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Health and economic outcomes of newborn screening for infantile-onset Pompe disease
Author / Creator:Richardson, John S. ; Kemper, Alex R. ; Grosse, Scott D. ; Lam, Wendy K.K. ; Rose, Angela M. ; Ahmad, Ayesha ; Gebremariam, Achamyeleh ; Prosser, Lisa A.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-04, Vol.23 (4), p.758-766
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An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
Author / Creator:Rustamov, Jaloliddin ; Rustamov, Zahiriddin ; Mohamad, Mohd Saberi ; Zaki, Nazar ; Al Tenaiji, Amal ; Al Harbi, Mariam ; Al Jasmi, Fatma
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-09, Vol.14 (1), p.21523-14, Article 21523
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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Author / Creator:Musumeci, O ; la Marca, G ; Spada, M ; Mondello, S ; Danesino, C ; Comi, G P ; Pegoraro, E ; Antonini, G ; Marrosu, G ; Liguori, R ; Morandi, L ; Moggio, M ; Massa, R ; Ravaglia, S ; Di Muzio, A ; Filosto, M ; Tonin, P ; Di Iorio, G ; Servidei, S ; Siciliano, G ; Angelini, C ; Mongini, T ; Toscano, A
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.5-11
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Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease
Author / Creator:Liao, Hsuan-Chieh ; Chan, Min-Ju ; Yang, Chia-Feng ; Chiang, Chuan-Chi ; Niu, Dau-Ming ; Huang, Chun-Kai ; Gelb, Michael H
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2017-07, Vol.63 (7), p.1271-1277
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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease
Author / Creator:Moschetti, Marta ; Venezia, Marika ; Giacomarra, Miriam ; Marsana, Emanuela Maria ; Zizzo, Carmela ; Duro, Giulia ; D’Errico, Annalisa ; Colomba, Paolo ; Duro, Giovanni
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (2), p.757
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Precision newborn screening for lysosomal disorders

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induct...

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Pompe's disease

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Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

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Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

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Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale

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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

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Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

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Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

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Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

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Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease

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microRNAs as biomarkers in Pompe disease

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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)

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Health and economic outcomes of newborn screening for infantile-onset Pompe disease

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An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

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Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease

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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease

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