P719: SMN1 deletion and silent carrier screening for spinal muscular atrophy

Autor: Poh San Lai, Grace Chia, Grace Tan, CP. Liu, PS. Low, Stacey Tay

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101623- (2024)

Externí odkaz: https://doaj.org/article/cb29ac93b7ef46878f71d7f02623156b

Implications of carbon pricing on food affordability and agri-food sector in Canada: A scoping review

Autor: Sylvain Charlebois, Swati Saxena, Gumataw Abebe, Tony Walker, Janet Music, Vlado Keselj, Karim Tuffaha, Keshava Pallavi Gone, Janele Vezeau, Bibhuti Sarker, Stacey Taylor

Publikováno v: Transportation Research Interdisciplinary Perspectives, Vol 28, Iss , Pp 101271- (2024)

This review delves into the effects of carbon pricing policies on food affordability and the performance of the agri-food sector, with a specific focus on Canada. Against the backdrop of the widespread adoption of carbon pricing as a crucial tool in

Externí odkaz: https://doaj.org/article/eeec8f0082c74e09a0429551482432b8

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Autor: Stacey Tay Kiat Hong, Georg F. Hoffmann, Angeles Garcia-Cazorla, Suet-Na Wong, Jan Kulhánek, Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Yilmaz Yildiz, Mari Oppebøen, Kathrin Jeltsch, Francesca Manzoni, H. Serap Sivri, Alberto Burlina, Saadet Mercimek-Andrews, Elisenda Cortès-Saladelafont, Dimitrios I. Zafeiriou, Sven F. Garbade, Thomas Opladen, Pablo Mir, Jennifer Friedman, Vincenzo Leuzzi, Joaquín Alejandro Fernández Ramos, Mario Mastrangelo, Eduardo López-Laso, Jeanette Koht, Dora Steel, Toni S. Pearson, Natalia Alexandra Julia Palacios, Filippo Manti, Thomas Lücke, Tomas Honzik, Jesus Serrano-Lomelin, Galina Stevanović, Ivana Kavecan, Cheuk-Wing Fung, Manju A. Kurian, Roser Pons, Helly Goez

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor deve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f279ea3be94854c044ec3973dbb2d767
http://hdl.handle.net/10261/269379

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Autor: Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas

Publikováno v: Nature Communications, 12, 1
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Digital.CSIC. Repositorio Institucional del CSIC
Nature Communications
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Nature Communications, 12

Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::243b56cdc4b72b758077eb20dd9513ed
https://repository.ubn.ru.nl/handle/2066/238541

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy

Autor: Poh Sim Low, Poh San Lai, Stacey Tay Kiat Hong, Vikaesh Moorthy, Swati Tomar, Raman Sethi, Josiah Chai

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics. 181(2)

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise mole

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f22595d8eeb1b416c5c659e7db7ea3e
https://pubmed.ncbi.nlm.nih.gov/31081998