Source: Derks , B 2024 , ' Galactosemias : Lessons from the GalNet registry, state of the art fertility insights, and exploring new treatments ' , Maastricht University , Maastricht .

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Natural history of three late-diagnosed classic Galactosemia patients

Authors : Quelhas, Dulce; Kingma, Sandra D.K.; Jonckheere, An I.

Subjects: Classic galactosemia; Late diagnosis; Natural history

Source: Quelhas , D , Kingma , S D K , Jonckheere , A I , Smeets-Peels , C S , Gomes , D C , Duro , J , Oliveira , A , Matthijs , G , Steinbusch , L K M , Jaeken , J , Rivera , I & Rubio-Gozalbo , E 2024 , '

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Cystathionine β-synthase deficiency in the E-HOD registry-part I:pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Authors : Kožich, Viktor; Sokolová, Jitka; Morris, Andrew A.M.

Subjects: developmental delay; homocystinuria; methionine

Source: Kožich , V , Sokolová , J , Morris , A A M , Pavlíková , M , Gleich , F , Kölker , S , Krijt , J , Dionisi-Vici , C , Baumgartner , M R , Blom , H J , Huemer , M , Aldámiz-Echevarría , L ,

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Project Earthrise: Proceedings of the Ninth Annual Conference of inVIVO Planetary Health

Authors : Prescott, S.L.; Wegienka, G.; Kort, R.

Subjects: planetary health; grand challenges; Anthropocene

Source: Prescott , S L , Wegienka , G , Kort , R , Nelson , D H , Gabrysch , S , Hancock , T , Kozyrskyj , A , Lowry , C A , Redvers , N , Poland , B , Robinson , J , Moubarac , J C , Warber , S , Jansson , J

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Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Authors : Bouman, K.; Groothuis, J.T.; Doorduin, J.

Subjects: LAMA2; Laminin subunit a2 deficiency; Merosin-deficient congenital muscular dystrophy type 1A (MDC1A)

Source: Bouman , K , Groothuis , J T , Doorduin , J , van Alfen , N , ten Cate , F E A U , van den Heuvel , F M A , Nijveldt , R , van Tilburg , W C M , Buckens , S C F M , Dittrich , A T M , Draaisma , J M T

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Reduction in IBS symptom severity is not paralleled by improvement in quality of life in patients with irritable bowel syndrome

Authors : Weerts, Zsa Zsa R. M.; Vork, Lisa; Mujagic, Zlatan

Subjects: irritable bowel syndrome; natural history; quality of life

Source: Weerts , Z Z R M , Vork , L , Mujagic , Z , Keszthelyi , D , Hesselink , M A M , Kruimel , J , Leue , C , Muris , J W M , Jonkers , D M A E & Masclee , A A M 2019 , ' Reduction in IBS symptom severity

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The natural history of classic galactosemia:lessons from the GalNet registry

Authors : Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.

Subjects: Registry; Natural history; Galactosemia

Source: Rubio-Gozalbo , M E , Haskovic , M , Bosch , A M , Burnyte , B , Coelho , A I , Cassiman , D , Couce , M L , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , M T , Grunewald , S , Haberle

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Mortality Risk Associated With Truncating Founder Mutations in Titin

Authors : Jansen, Mark; Baas, Annette F.; van Spaendonck-Zwarts, Karin Y.

Subjects: cardiomyopathy; dilated; mortality

Source: Jansen , M , Baas , A F , van Spaendonck-Zwarts , K Y , Ummels , A S , van den Wijngaard , A , Jongbloed , J D H , van Slegtenhorst , M A , Deprez , R H L , Wessels , M W , Michels , M , Houweling , A

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Preliminary stop of the TOPical Imiquimod treatment of high-grade Cervical intraepithelial neoplasia (TOPIC) trial

Authors : Koeneman, M. M.; Kruse, A. J.; Kooreman, L. F. S.

Subjects: Cervical intraepithelial neoplasia; Imiquimod; Biological markers

Source: Koeneman , M M , Kruse , A J , Kooreman , L F S , zur Hausen , A , Hopman , A H N , Sep , S J S , Van Gorp , T , Slangen , B F M , van Beekhuizen , H J , van de Sande , A J M , Gerestein , C G ,

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Epidemiology and Long-term Outcome of Inflammatory Bowel Disease Diagnosed at Elderly Age:An Increasing Distinct Entity?

Authors : Jeuring, Steven F. G.; van den Heuvel, Tim R. A.; Zeegers, Maurice P.

Subjects: inflammatory bowel disease; elderly; epidemiology

Source: Jeuring , S F G , van den Heuvel , T R A , Zeegers , M P , Hameeteman , W H , Romberg-Camps , M J L , Oostenbrug , L E , Masclee , A A M , Jonkers , D M A E & Pierik , M J 2016 , ' Epidemiology and

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