Screening for late-onset Pompe disease in Poland.

Jastrzebska, Aleksandra; Potulska-Chromik, Anna; Lusakowska, Anna; Jastrzebski, Milosz; Lipowska, Marta; Kierdaszuk, Biruta; Kaminska, Anna; Kostera-Pruszczyk, Anna

Jastrzebska, Aleksandra; Potulska-Chromik, Anna; Lusakowska, Anna; Jastrzebski, Milosz; Lipowska, Marta; Kierdaszuk, Biruta; Kaminska, Anna; Kostera-Pruszczyk, Anna.

Affiliation

Jastrzebska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Potulska-Chromik A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Lusakowska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Jastrzebski M; Department of Gastroenterology and Internal Medicine, Medical University of Warsaw, Warsaw, Poland.
Lipowska M; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Kierdaszuk B; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Kaminska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.

Acta Neurol Scand ; 140(4): 239-243, 2019 Oct.

Article in En | MEDLINE | ID: mdl-31125121

Subject(s)

Genetic Testing/methods; Glycogen Storage Disease Type II/blood; Glycogen Storage Disease Type II/genetics; Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Cohort Studies; Dried Blood Spot Testing/methods; Female; Glycogen Storage Disease Type II/diagnosis; Glycogen Storage Disease Type II/epidemiology; Humans; Male; Middle Aged; Muscular Dystrophies, Limb-Girdle/blood; Muscular Dystrophies, Limb-Girdle/diagnosis; Muscular Dystrophies, Limb-Girdle/epidemiology; Muscular Dystrophies, Limb-Girdle/genetics; Mutation/genetics; Poland/epidemiology; Young Adult

Key words

Pompe disease; dry blood spot; glycogen storage type 2; high CK; limb-girdle; screening

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Full text: 1 Database: MEDLINE Main subject: Glycogen Storage Disease Type II / Genetic Testing Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Year: 2019 Type: Article

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