Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

Autor: Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut

Publikováno v: International Journal of Neonatal Screening, Vol 8, Iss 1, p 2 (2021)

There was an error in the original publication [...]

Externí odkaz: https://doaj.org/article/177f459784c44219bfd4f199aa33be6a

Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

Autor: Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets

Publikováno v: Frontiers in Neurology, Vol 7 (2016)

In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severi

Externí odkaz: https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Autor: Marcello Scala, Saskia B. Wortmann, Namik Kaya, Menno D. Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D. Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka‐Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B. Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G. Karimiani, Yilmaz Yildiz, Ahmet C. Ceylan, Teresa Santiago‐Sim, Amy Dameron, Hui Yang, Mehran B. Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S. Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A. Al‐Muhaizea, Meznah O. Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H. Alwadei, Maha M. AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A. Lines, M. Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P. Ferla, Jenny C. Taylor, Hessa S. Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt‐Mechelke, Andreas Ziegler, Mahmoud Y. Issa, Hasnaa M. Elbendary, Pasquale Striano, Fowzan S. Alkuraya, Maha S. Zaki, Joseph G. Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S. Knaap, Reza Maroofian, Henry Houlden

Publikováno v: Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency ', Human Mutation, vol. 43, no. 3, pp. 403-419 . https://doi.org/10.1002/humu.24326
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(3), 403-419. Wiley-Liss Inc.
Human mutation, 43(3), 403-419. Wiley-Liss Inc.
Human Mutation, 43, 403-419
Human Mutation, 43(3), 403-419. Wiley
Hum. Mutat. 43, 403-419 (2022)
Human Mutation, 43, 3, pp. 403-419

Contains fulltext : 283128.pdf (Publisher’s version ) (Open Access) Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an es

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ffced23d066eec204dd4691b5d99de5
https://research.vumc.nl/en/publications/ab0f523f-283b-4ff5-9638-a2480282ed32

Outcomes for Infants Born in Perinatal Centers Performing Fewer Surgical Ligations for Patent Ductus Arteriosus: A Swiss Population-Based Study

Autor: Mark Adams, Sven M. Schulzke, Giancarlo Natalucci, Juliane Schneider, Thomas Riedel, Cristina Borradori Tolsa, Riccardo Pfister, Dirk Bassler, Philipp Meyer, Rachel Kusche, Andrea Capone Mori, Daniela Kaeppeli, Marc Brotzmann, Gian Paolo Ramelli, Barbara Simonetti Goeggel, Jane McDougall, Tilman Humpl, Maja Steinlin, Sebastian Grunt, Mathias Gebauer, Ralph Hassink, Elmar Keller, Christa Killer, Gaelle Blanchard, Riccardo E. Pfister, Petra S. Huppi, Cristina Borradori-Tolsa, Jean-François Tolsa, Matthias Roth-Kleiner, Myriam Bickle-Graz, Martin Stocker, Thomas Schmitt-Mechelke, Florian Bauder, Bernd Erkert, Anita Mueller, Marc Ecoffey, Andreas Malzacher, Bjarte Rogdo, Anette Lang-Dullenkopf, Lukas Hegi, Michael von Rhein, Vera Bernet, Maren Tomaske, Romaine Arlettaz, Cornelia Hagmann, Bea Latal, Ruth Etter

Publikováno v: The Journal of Pediatrics, Vol. 237 (2021) pp. 213-220.e2

Objective To assess patent ductus arteriosus treatment variation between Swiss perinatal centers and to determine its effect on outcome in a population-based setting. Study design This was a retrospective cohort study of infants born less than 28 wee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::272fe5c746707e743a585aa984604e00
https://doi.org/10.5167/uzh-205255

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

Autor: Melanie Kocher, Ralph Fingerhut, Florian Bauder, Vassiliki Konstantopoulou, Johannes Spenger, Katharina A. Schiergens, Katharina Wechselberger, Wolfgang Sperl, Esther M. Maier, Saskia B. Wortmann, Johannes Häberle, Thomas Schmitt-Mechelke, Wulf Röschinger, Martin Preisel

Publikováno v: International Journal of Neonatal Screening
International Journal of Neonatal Screening; Volume 7; Issue 2; Pages: 32
International Journal of Neonatal Screening, Vol 7, Iss 32, p 32 (2021)

Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff906a2194ff8ec194855b22b4b88d1b
https://doi.org/10.3390/ijns7020032