Clinical presentation and proteomic signature of patients with TANGO2 mutations

Autor: Aurora Pujol, Sarah C. Grünert, Leigh B. Waddell, Cecilia Jimenez-Mallebrera, Ana Töpf, Frances J. Evesson, Antonia Ribes, Carlos Ortez, Daniel McArthur, Sandra T. Cooper, Charlotte L. Alston, Delia Yubero, Georgia Sarquella, Saikat Santra, Janbernd Kirschner, Agatha Schlüter, Rita Horvath, Kyle Thompson, Nicolai Kohlschmidt, Michael Champion, Hanns Lochmüller, Robert W. Taylor, Claudia Gross, Gina L. O’Grady, Maria del Mar O’Callaghan, Efsthatia Chronopoulou, M. A. Preece, Andrés Nascimento, Majumdar Anirban, Christian Turner, Denisa Hathazi, Germaine Pierre, Frederic Tort, Nadja Mingirulli, Raquel Montero, Sergei Korenev, Angela Pyle, Jennifer Duff, Andreas Roos, Angels García-Cazorla, Rafael Artuch, Plácido Navas, Cristina Jou

Publikováno v: Journal of Inherited Metabolic Disease
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Mingirulli, N, Pyle, A, Hathazi, D, Alston, C L, Kohlschmidt, N, O'Grady, G, Waddell, L, Evesson, F, Cooper, S B T, Turner, C, Duff, J, Topf, A, Yubero, D, Jou, C, Nascimento, A, Ortez, C, García-Cazorla, A, Gross, C, O'Callaghan, M, Santra, S, Preece, M A, Champion, M, Korenev, S, Chronopoulou, E, Anirban, M, Pierre, G, McArthur, D, Thompson, K, Navas, P, Ribes, A, Tort, F, Schlüter, A, Pujol, A, Montero, R, Sarquella, G, Lochmüller, H, Jiménez-Mallebrera, C, Taylor, R W, Artuch, R, Kirschner, J, Grünert, S C, Roos, A & Horvath, R 2020, ' Clinical presentation and proteomic signature of patients with TANGO2 mutations ', Journal of Inherited Metabolic Disease, vol. 43, no. 2, pp. 297-308 . https://doi.org/10.1002/jimd.12156
Digital.CSIC. Repositorio Institucional del CSIC
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic acidosis, rhabdomyolysis,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b0430fb79fe65dede4704cce78c6bc
http://europepmc.org/articles/PMC7078914

In vivo growth and genomic characterization of rickettsia-like organisms isolated from farmed Chinook salmon (Oncorhynchus tshawytscha) in New Zealand

Autor: B. Jones, Cara L. Brosnahan, H J Ha, M A Preece, Della Orr, B Binney, E Gias

Publikováno v: Journal of fish diseases.

A rickettsia‐like organism, designated NZ‐RLO2, was isolated from Chinook salmon (Oncorhynchus tshawytscha) farmed in the South Island, New Zealand. In vivo growth showed NZ‐RLO2 was able to grow in CHSE‐214, EPC, BHK‐21, C6/36 and Sf21 cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9693cca0203767b91e48d9a5132cf4f
https://pubmed.ncbi.nlm.nih.gov/29806079

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK

Autor: Mikio Iijima, Ulrich Baumann, Anupam Chakrapani, T Hutchin, Verity M Mcclelland, Patrick J. McKiernan, Fumihiko Okumura, Takeyori Saheki, Christian J. Hendriksz, Keiko Kobayashi, M. A. Preece, Yuan-Zong Song

Publikováno v: Journal of Inherited Metabolic Disease. 32:151-155

Citrin deficiency is a disorder with two phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and adult-onset type II citrullinaemia (CTLN2). NICCD presents in the first few weeks of life with prolonged cholestasis and m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38396d4b02dc6eacf3f3a134570085b8
https://doi.org/10.1007/s10545-009-1116-x

The usefulness of bone marrow aspiration in the diagnosis of Niemann-Pick disease type C in infantile liver disease

Autor: Rachel M. Brown, R. G. F. Gray, M. A. Preece, Femida Hill, Ulrich Baumann, AF Rodrigues, Patrick J. McKiernan

Publikováno v: Archives of Disease in Childhood. 91:841-844

Background: Niemann–Pick disease type C (NPC) is a fatal, autosomal recessive lysosomal storage disease which may present in infancy with cholestatic jaundice and/or hepatosplenomegaly. In cholestatic patients with splenomegaly, a bone marrow aspir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e89e0c97e4d0240555f573bc9cf837
https://doi.org/10.1136/adc.2005.088013

Using the Ambulatory Care Teaching Centre to develop opportunities for integrated learning

Autor: H. Mei-Ling Ball, John A. Dent, Heather M. Angell-Preece, Jean Ker

Publikováno v: Medical Teacher. 23:171-175

An Ambulatory Care Teaching Centre (ACTC) has provided an opportunity to develop an integrated teaching programme in a supervised environment which links students' initial clinical experiences in the skills centre with patient-contact in other teachi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d4cde3d40fe4246a752be7993f7561
https://doi.org/10.1080/0142159002005587