Screening for Pompe disease in a Portuguese high risk population
Highlights • Pompe disease (PD) is a rare metabolic disorder with available therapy. • Dried blood spots are a reliable method to screen for PD. • PD was screened in high risk patients followed in Portuguese neuromuscular clinics. • Four new cases of Pompe disease were identified. • The typical hall...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2017-08, Vol.27 (8), p.777-781 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Almeida, Vânia Conceição, Isabel Fineza, Isabel Coelho, Teresa Silveira, Fernando Santos, Manuela Valverde, Ana Geraldo, Argemiro Maré, Ricardo Aguiar, Teresa Carolina Mendonça, Carla Martins, João Medeiros, Luísa Barroso, Cândida Vieira, José Pedro Moreno, Teresa Negrão, Luis Dias, Margarida Silva Lacerda, Lúcia Evangelista, Teresinha |
| description | Highlights • Pompe disease (PD) is a rare metabolic disorder with available therapy. • Dried blood spots are a reliable method to screen for PD. • PD was screened in high risk patients followed in Portuguese neuromuscular clinics. • Four new cases of Pompe disease were identified. • The typical hallmarks of the disease were missing in some patients. |
| doi_str_mv | 10.1016/j.nmd.2017.03.010 |
| format | Article |
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diagnosis</subject><subject>Glycogen Storage Disease Type II - physiopathology</subject><subject>High risk population screening</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Muscle Weakness - diagnosis</subject><subject>Muscle Weakness - physiopathology</subject><subject>Neurology</subject><subject>Pompe disease</subject><subject>Portugal</subject><subject>Prospective Studies</subject><subject>Risk</subject><subject>Young Adult</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kUFv1DAQhS0EokvpD-CCcuSSMLZjOxYSoqqgRapEpdKzlbUnW28TO9gJUv99vdrCgQMXj2y998bzDSHvKDQUqPy4b8LkGgZUNcAboPCCbGineM24bF-SDWgJdaelPCFvct4DUKGkek1OWCdEK4TakC-3NiEGH3bVEFN1E6cZK-cz9hkrH6q-PKVl3a1Y7vd-d18lnx-qOc7r2C8-hrfk1dCPGc-e6ym5-_b158VVff3j8vvF-XVtW6WXujQD29GWcyG1GAbRoxssAzmAdVJpt7XUSsEdaykdhBaguMRtW06mNFf8lHw45s4p_iq_Wczks8Vx7APGNRuqgeuWKSaKlB6lNsWcEw5mTn7q06OhYA7gzN4UcOYAzgA3BVzxvH-OX7cTur-OP6SK4NNRgGXI3x6TydZjsOh8QrsYF_1_4z__47ajD9724wM-Yt7HNYVCz1CTmQFze9jcYXFU8pLYdvwJ9z6RRw</recordid><startdate>20170801</startdate><enddate>20170801</enddate><creator>Almeida, Vânia</creator><creator>Conceição, Isabel</creator><creator>Fineza, Isabel</creator><creator>Coelho, Teresa</creator><creator>Silveira, Fernando</creator><creator>Santos, Manuela</creator><creator>Valverde, Ana</creator><creator>Geraldo, Argemiro</creator><creator>Maré, Ricardo</creator><creator>Aguiar, Teresa Carolina</creator><creator>Mendonça, Carla</creator><creator>Martins, João</creator><creator>Medeiros, Luísa</creator><creator>Barroso, Cândida</creator><creator>Vieira, José Pedro</creator><creator>Moreno, Teresa</creator><creator>Negrão, Luis</creator><creator>Dias, Margarida Silva</creator><creator>Lacerda, Lúcia</creator><creator>Evangelista, Teresinha</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20170801</creationdate><title>Screening for Pompe disease in a Portuguese high risk population</title><author>Almeida, Vânia ; Conceição, Isabel ; Fineza, Isabel ; Coelho, Teresa ; Silveira, Fernando ; Santos, Manuela ; Valverde, Ana ; Geraldo, Argemiro ; Maré, Ricardo ; Aguiar, Teresa Carolina ; Mendonça, Carla ; Martins, João ; Medeiros, Luísa ; Barroso, Cândida ; Vieira, José Pedro ; Moreno, Teresa ; Negrão, Luis ; Dias, Margarida Silva ; Lacerda, Lúcia ; Evangelista, Teresinha</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c479t-5570c814335695ff5aedfc206f0cd679dbc1c653d2411f5950736eb4736279373</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Acid α-glucosidase deficiency</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Ambulatory Care</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Dried blood spot</topic><topic>Dried Blood Spot Testing</topic><topic>Female</topic><topic>Glycogen Storage Disease Type II - 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| ispartof | Neuromuscular disorders : NMD, 2017-08, Vol.27 (8), p.777-781 |
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| subjects | Acid α-glucosidase deficiency Adolescent Adult Age of Onset Aged Aged, 80 and over Ambulatory Care Child Child, Preschool Dried blood spot Dried Blood Spot Testing Female Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - physiopathology High risk population screening Humans Male Middle Aged Muscle Weakness - diagnosis Muscle Weakness - physiopathology Neurology Pompe disease Portugal Prospective Studies Risk Young Adult |
| title | Screening for Pompe disease in a Portuguese high risk population |
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