Source: Kalarus , Z , Mairesse , G H , Sokal , A , Boriani , G , Średniawa , B , Casado-Arroyo , R , Wachter , R , Frommeyer , G , Traykov , V , Dagres , N , Lip , G Y H , Boersma , L , Peichl , P , Dobrev ,

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Newborn screening for primary carnitine deficiency:Who will benefit? - A retrospective cohort study

Authors : Crefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N.

Subjects: Human Genetics; Neonatal Screening; Pathological Conditions

Source: Crefcoeur , L , Ferdinandusse , S , van der Crabben , S N , Dekkers , E , Fuchs , S A , Huidekoper , H , Janssen , M , Langendonk , J , Maase , R , de Sain , M , Rubio , E , van Spronsen , F J , Vaz ,

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The PID Odyssey 2030:outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022)

Authors : Tadros, Susan; Prévot, Johan; Meyts, Isabelle

Subjects: gene therapy; hematopoietic stem cell transplantation; immunoglobulin replacement therapy/plasma derived medicinal products

Source: Tadros , S , Prévot , J , Meyts , I , Sánchez-Ramón , S , Erwa , N H , Fischer , A , Lefevre , G , Hotchko , M , Jaworski , P M , Leavis , H , Boersma , C , Drabwell , J , van Hagen , M , Van

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Tools and criteria to select patients with advanced Parkinson’s disease for device-aided therapies:a narrative review

Authors : Moes, Harmen R.; Henriksen, Tove; Sławek, Jarosław

Subjects: CSAI; DBS; Device-aided therapies

Source: Moes , H R , Henriksen , T , Sławek , J , Phokaewvarangkul , O , Buskens , E & van Laar , T 2023 , ' Tools and criteria to select patients with advanced Parkinson’s disease for device-aided

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A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

Authors : Koens, Lisette H.; Klamer, Marrit R.; Sival, Deborah A.

Subjects: diagnosis; inborn errors of metabolism; movement disorders

Source: Koens , L H , Klamer , M R , Sival , D A , Balint , B , Bhatia , K P , Contarino , M F , van Egmond , M E , Erro , R , Friedman , J , Fung , V S C , Ganos , C , Kurian , M A , Lang , A E , McGovern ,

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Closing the gap between screening and depression prevention:a qualitative study on barriers and facilitators from the perspective of public health professionals in a school-based prevention approach

Authors : Braam, Marloes W.G.; Rasing, Sanne P.A.; Heijs, Dewi A.M.

Subjects: Adolescents; Depressive symptoms; Prevention

Source: Braam , M W G , Rasing , S P A , Heijs , D A M , Lokkerbol , J , van Bergen , D D , Creemers , D H M & Spijker , J 2023 , ' Closing the gap between screening and

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Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

Authors : Crefcoeur, Loek L.; Heiner-Fokkema, M. Rebecca; Maase, Rose E.

Subjects: carnitine; FCE; newborn screening

Source: Crefcoeur , L L , Heiner-Fokkema , M R , Maase , R E , Visser , G & de Sain-van der Velden , M G M 2023 , ' Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for

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Screening Instrument for Dysphagia in people with an Intellectual Disability (SD-ID): Quick and reliable screening by caregivers

Authors : van der Woude, T. S.; Schüller-Korevaar, R. M.; Ulgiati, A. M.

Subjects: Dysphagia; Intellectual Disability; Reliability Study

Source: van der Woude , T S , Schüller-Korevaar , R M , Ulgiati , A M , Pavlis-Maldonado , G J , Hovenkamp-Hermelink , J H M & Dekker , A D 2023 , ' Screening Instrument for

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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Authors : Koza, Sylvia A.; Tabet, Anne C.; Bonaglia, Maria C.

Subjects: Counselling; NF2-related tumours; Phelan-McDermid syndrome

Source: Koza , S A , Tabet , A C , Bonaglia , M C , Andres , S , Anderlid , B M , Aten , E , Stiefsohn , D , the European Phelan-McDermid syndrome consortium , Evans , D G , van Ravenswaaij-Arts , C M A &

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Colorectal cancer screening in patients with inherited bleeding disorders:high cancer detection rate in hemophilia patients

Authors : Kempers, Eva K.; van Kwawegen, Calvin B.; de Meris, Joke

Subjects: colorectal neoplasms; hemophilia A; hemophilia B

Source: Kempers , E K , van Kwawegen , C B , de Meris , J , Spaander , M C W , Schols , S E M , Ypma , P F , Heubel-Moenen , F C J I , van Vulpen , L F D , Coppens , M , van der Bom , J G , Fijnvandraat , K ,

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