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Pregled bibliografske jedinice broj: 1264804

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(E-IMD) Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela et al.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype // Journal of Inherited Metabolic Disease, 38 (2015), 6; 1059-1074 doi:10.1007/s10545-015-9840-x (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1264804 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Autori
Kölker, Stefan ; Valayannopoulos, Vassili ; Burlina, Alberto B. ; Sykut-Cegielska, Jolanta ; Wijburg, Frits A. ; Teles, Elisa Leão ; Zeman, Jiri ; Dionisi-Vici, Carlo ; Barić, Ivo ; Karall, Daniela ; Arnoux, Jean-Baptiste ; Avram, Paula ; Baumgartner, Matthias R. ; Blasco-Alonso, Javier ; Boy, S. P. Nikolas ; Rasmussen, Marlene Bøgehus ; Burgard, Peter ; Chabrol, Brigitte ; Chakrapani, Anupam ; Chapman, Kimberly ; Cortès i Saladelafont, Elisenda ; Couce, Maria L. ; de Meirleir, Linda ; Dobbelaere, Dries ; Furlan, Francesca ; Gleich, Florian ; González, Maria Julieta ; Gradowska, Wanda ; Grünewald, Stephanie ; Honzik, Tomas ; Hörster, Friederike ; Ioannou, Hariklea ; Jalan, Anil ; Häberle, Johannes ; Haege, Gisela ; Langereis, Eveline ; de Lonlay, Pascale ; Martinelli, Diego ; Matsumoto, Shirou ; Mühlhausen, Chris ; Murphy, Elaine ; de Baulny, Hélène Ogier ; Ortez, Carlos ; Pedrón, Consuelo C. ; Pintos-Morell, Guillem ; Pena-Quintana, Luis ; Ramadža, Danijela Petković ; Rodrigues, Esmeralda ; Scholl-Bürgi, Sabine ; Sokal, Etienne ; Summar, Marshall L. ; Thompson, Nicholas ; Vara, Roshni ; Pinera, Inmaculada Vives ; Walter, John H. ; Williams, Monique ; Lund, Allan M. ; Garcia Cazorla, Angeles

Kolaboracija
E-IMD

Izvornik
Journal of Inherited Metabolic Disease (0141-8955) 38 (2015), 6; 1059-1074

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
organic acidurias, urea cycle disorders, registry, phenotype

Sažetak
Background: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Results: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. Conclusions: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Danijela Petković-Ramadža (autor)

Avatar Url Ivo Barić (autor)

Poveznice na cjeloviti tekst rada:

doi pubmed.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

(E-IMD) Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut-Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela et al.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype // Journal of Inherited Metabolic Disease, 38 (2015), 6; 1059-1074 doi:10.1007/s10545-015-9840-x (međunarodna recenzija, članak, znanstveni)
(E-IMD) (E-IMD) Kölker, S., Valayannopoulos, V., Burlina, A., Sykut-Cegielska, J., Wijburg, F., Teles, E., Zeman, J., Dionisi-Vici, C., Barić, I. & Karall, D. (2015) The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of Inherited Metabolic Disease, 38 (6), 1059-1074 doi:10.1007/s10545-015-9840-x.
@article{article, author = {K\"{o}lker, Stefan and Valayannopoulos, Vassili and Burlina, Alberto B. and Sykut-Cegielska, Jolanta and Wijburg, Frits A. and Teles, Elisa Le\~{a}o and Zeman, Jiri and Dionisi-Vici, Carlo and Bari\'{c}, Ivo and Karall, Daniela and Arnoux, Jean-Baptiste and Avram, Paula and Baumgartner, Matthias R. and Blasco-Alonso, Javier and Boy, S. P. Nikolas and Rasmussen, Marlene B\ogehus and Burgard, Peter and Chabrol, Brigitte and Chakrapani, Anupam and Chapman, Kimberly and Cort\`{e}s i Saladelafont, Elisenda and Couce, Maria L. and de Meirleir, Linda and Dobbelaere, Dries and Furlan, Francesca and Gleich, Florian and Gonz\'{a}lez, Maria Julieta and Gradowska, Wanda and Gr\"{u}newald, Stephanie and Honzik, Tomas and H\"{o}rster, Friederike and Ioannou, Hariklea and Jalan, Anil and H\"{a}berle, Johannes and Haege, Gisela and Langereis, Eveline and de Lonlay, Pascale and Martinelli, Diego and Matsumoto, Shirou and M\"{u}hlhausen, Chris and Murphy, Elaine and de Baulny, H\'{e}l\`{e}ne Ogier and Ortez, Carlos and Pedr\'{o}n, Consuelo C. and Pintos-Morell, Guillem and Pena-Quintana, Luis and Ramad\v{z}a, Danijela Petkovi\'{c} and Rodrigues, Esmeralda and Scholl-B\"{u}rgi, Sabine and Sokal, Etienne and Summar, Marshall L. and Thompson, Nicholas and Vara, Roshni and Pinera, Inmaculada Vives and Walter, John H. and Williams, Monique and Lund, Allan M. and Garcia Cazorla, Angeles}, year = {2015}, pages = {1059-1074}, DOI = {10.1007/s10545-015-9840-x}, keywords = {organic acidurias, urea cycle disorders, registry, phenotype}, journal = {Journal of Inherited Metabolic Disease}, doi = {10.1007/s10545-015-9840-x}, volume = {38}, number = {6}, issn = {0141-8955}, title = {The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype}, keyword = {organic acidurias, urea cycle disorders, registry, phenotype} }
@article{article, author = {K\"{o}lker, Stefan and Valayannopoulos, Vassili and Burlina, Alberto B. and Sykut-Cegielska, Jolanta and Wijburg, Frits A. and Teles, Elisa Le\~{a}o and Zeman, Jiri and Dionisi-Vici, Carlo and Bari\'{c}, Ivo and Karall, Daniela and Arnoux, Jean-Baptiste and Avram, Paula and Baumgartner, Matthias R. and Blasco-Alonso, Javier and Boy, S. P. Nikolas and Rasmussen, Marlene B\ogehus and Burgard, Peter and Chabrol, Brigitte and Chakrapani, Anupam and Chapman, Kimberly and Cort\`{e}s i Saladelafont, Elisenda and Couce, Maria L. and de Meirleir, Linda and Dobbelaere, Dries and Furlan, Francesca and Gleich, Florian and Gonz\'{a}lez, Maria Julieta and Gradowska, Wanda and Gr\"{u}newald, Stephanie and Honzik, Tomas and H\"{o}rster, Friederike and Ioannou, Hariklea and Jalan, Anil and H\"{a}berle, Johannes and Haege, Gisela and Langereis, Eveline and de Lonlay, Pascale and Martinelli, Diego and Matsumoto, Shirou and M\"{u}hlhausen, Chris and Murphy, Elaine and de Baulny, H\'{e}l\`{e}ne Ogier and Ortez, Carlos and Pedr\'{o}n, Consuelo C. and Pintos-Morell, Guillem and Pena-Quintana, Luis and Ramad\v{z}a, Danijela Petkovi\'{c} and Rodrigues, Esmeralda and Scholl-B\"{u}rgi, Sabine and Sokal, Etienne and Summar, Marshall L. and Thompson, Nicholas and Vara, Roshni and Pinera, Inmaculada Vives and Walter, John H. and Williams, Monique and Lund, Allan M. and Garcia Cazorla, Angeles}, year = {2015}, pages = {1059-1074}, DOI = {10.1007/s10545-015-9840-x}, keywords = {organic acidurias, urea cycle disorders, registry, phenotype}, journal = {Journal of Inherited Metabolic Disease}, doi = {10.1007/s10545-015-9840-x}, volume = {38}, number = {6}, issn = {0141-8955}, title = {The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype}, keyword = {organic acidurias, urea cycle disorders, registry, phenotype} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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