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Pregled bibliografske jedinice broj: 1260821

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Posset, Roland; Garbade, Sven F.; Gleich, Florian; Gropman, Andrea L.; de Lonlay, Pascale; Hoffmann, Georg F.; Garcia-Cazorla, Angeles; Nagamani, Sandesh C. S.; Baumgartner, Matthias R.; Schulze, Andreas et al.
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders // Scientific Reports, 10 (2020), 1; 11948, 13 doi:10.1038/s41598-020-67496-3 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1260821 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Autori
Posset, Roland ; Garbade, Sven F. ; Gleich, Florian ; Gropman, Andrea L. ; de Lonlay, Pascale ; Hoffmann, Georg F. ; Garcia-Cazorla, Angeles ; Nagamani, Sandesh C. S. ; Baumgartner, Matthias R. ; Schulze, Andreas ; Dobbelaere, Dries ; Yudkoff, Marc ; Kölker, Stefan ; Zielonka, Matthias ; Ah Mew, Nicholas ; Berry, Susan A. ; McCandless, Shawn E. ; Coughlin, Curtis ; Enns, Gregory ; Gallagher, Renata C. ; Burrage, Lindsay C. ; Seminara, Jennifer ; Harding, Cary O. ; Burgard, Peter ; Le Mons, Cynthia ; Merritt, J. Lawrence ; Stricker, Tamar ; Bedoyan, Jirair K. ; Berry, Gerard T. ; Diaz, George A. ; Wong, Derek ; Tuchman, Mendel ; Waisbren, Susan ; Weisfeld- Adams, James D. ; Burlina, Alberto B. ; Leão Teles, Elisa ; Pedrón-Giner, Consuelo ; Lund, Allan M. ; Dionisi-Vici, Carlo ; Williams, Monique ; Mütze, Ulrike ; Karall, Daniela ; Blasco-Alonso, Javier ; Couce, Maria L. ; Sykut-Cegielska, Jolanta ; Augoustides-Savvopoulou, Persephone ; Ruiz Gomez, Angeles ; Barić, Ivo ; Schiff, Manuel ; Chien, Yin-Hsiu ; Lindner, Martin ; Chabrol, Brigitte ; Skouma, Anastasia ; Zeman, Jiri ; Sokal, Etienne ; Santer, René ; Eyskens, Francois ; Freisinger, Peter ; Peña-Quintana, Luis ; Roland, Dominique ; Cortès-Saladelafont, Elisenda ; Djordjevic, Maja ; Urea Cycle Disorders Consortium (UCDC) ; European registry and network for Intoxication type Metabolic Diseases (E-IMD)

Kolaboracija
European registry and network for Intoxication type Metabolic Diseases (E-IMD)

Izvornik
Scientific Reports (2045-2322) 10 (2020), 1; 11948, 13

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

Ključne riječi
urea cycle disorders ; medical management ; growth ; weight

Sažetak
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long- term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine growth of all investigated UCDs and postnatal linear growth of asymptomatic individuals remained unaffected. Symptomatic individuals were at risk of progressive growth retardation independent from the underlying disease and the degree of natural protein restriction. Growth impairment was determined by disease severity and associated with reduced or borderline plasma branched-chain amino acid (BCAA) concentrations. Liver transplantation appeared to have a beneficial effect on growth. Weight development remained unaffected both in asymptomatic and symptomatic individuals. Progressive growth impairment depends on disease severity and plasma BCAA concentrations, but cannot be predicted by the amount of natural protein intake alone. Future clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth in UCDs.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Ivo Barić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Posset, Roland; Garbade, Sven F.; Gleich, Florian; Gropman, Andrea L.; de Lonlay, Pascale; Hoffmann, Georg F.; Garcia-Cazorla, Angeles; Nagamani, Sandesh C. S.; Baumgartner, Matthias R.; Schulze, Andreas et al.
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders // Scientific Reports, 10 (2020), 1; 11948, 13 doi:10.1038/s41598-020-67496-3 (međunarodna recenzija, članak, znanstveni)
(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) (European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Posset, R., Garbade, S., Gleich, F., Gropman, A., de Lonlay, P., Hoffmann, G., Garcia-Cazorla, A., Nagamani, S., Baumgartner, M. & Schulze, A. (2020) Long-term effects of medical management on growth and weight in individuals with urea cycle disorders. Scientific Reports, 10 (1), 11948, 13 doi:10.1038/s41598-020-67496-3.
@article{article, author = {Posset, Roland and Garbade, Sven F. and Gleich, Florian and Gropman, Andrea L. and de Lonlay, Pascale and Hoffmann, Georg F. and Garcia-Cazorla, Angeles and Nagamani, Sandesh C. S. and Baumgartner, Matthias R. and Schulze, Andreas and Dobbelaere, Dries and Yudkoff, Marc and K\"{o}lker, Stefan and Zielonka, Matthias and Ah Mew, Nicholas and Berry, Susan A. and McCandless, Shawn E. and Coughlin, Curtis and Enns, Gregory and Gallagher, Renata C. and Burrage, Lindsay C. and Seminara, Jennifer and Harding, Cary O. and Burgard, Peter and Le Mons, Cynthia and Merritt, J. Lawrence and Stricker, Tamar and Bedoyan, Jirair K. and Berry, Gerard T. and Diaz, George A. and Wong, Derek and Tuchman, Mendel and Waisbren, Susan and Weisfeld- Adams, James D. and Burlina, Alberto B. and Le\~{a}o Teles, Elisa and Pedr\'{o}n-Giner, Consuelo and Lund, Allan M. and Dionisi-Vici, Carlo and Williams, Monique and M\"{u}tze, Ulrike and Karall, Daniela and Blasco-Alonso, Javier and Couce, Maria L. and Sykut-Cegielska, Jolanta and Augoustides-Savvopoulou, Persephone and Ruiz Gomez, Angeles and Bari\'{c}, Ivo and Schiff, Manuel and Chien, Yin-Hsiu and Lindner, Martin and Chabrol, Brigitte and Skouma, Anastasia and Zeman, Jiri and Sokal, Etienne and Santer, Ren\'{e} and Eyskens, Francois and Freisinger, Peter and Pe\~{n}a-Quintana, Luis and Roland, Dominique and Cort\`{e}s-Saladelafont, Elisenda and Djordjevic, Maja}, year = {2020}, pages = {13}, DOI = {10.1038/s41598-020-67496-3}, chapter = {11948}, keywords = {urea cycle disorders, medical management, growth, weight}, journal = {Scientific Reports}, doi = {10.1038/s41598-020-67496-3}, volume = {10}, number = {1}, issn = {2045-2322}, title = {Long-term effects of medical management on growth and weight in individuals with urea cycle disorders}, keyword = {urea cycle disorders, medical management, growth, weight}, chapternumber = {11948} }
@article{article, author = {Posset, Roland and Garbade, Sven F. and Gleich, Florian and Gropman, Andrea L. and de Lonlay, Pascale and Hoffmann, Georg F. and Garcia-Cazorla, Angeles and Nagamani, Sandesh C. S. and Baumgartner, Matthias R. and Schulze, Andreas and Dobbelaere, Dries and Yudkoff, Marc and K\"{o}lker, Stefan and Zielonka, Matthias and Ah Mew, Nicholas and Berry, Susan A. and McCandless, Shawn E. and Coughlin, Curtis and Enns, Gregory and Gallagher, Renata C. and Burrage, Lindsay C. and Seminara, Jennifer and Harding, Cary O. and Burgard, Peter and Le Mons, Cynthia and Merritt, J. Lawrence and Stricker, Tamar and Bedoyan, Jirair K. and Berry, Gerard T. and Diaz, George A. and Wong, Derek and Tuchman, Mendel and Waisbren, Susan and Weisfeld- Adams, James D. and Burlina, Alberto B. and Le\~{a}o Teles, Elisa and Pedr\'{o}n-Giner, Consuelo and Lund, Allan M. and Dionisi-Vici, Carlo and Williams, Monique and M\"{u}tze, Ulrike and Karall, Daniela and Blasco-Alonso, Javier and Couce, Maria L. and Sykut-Cegielska, Jolanta and Augoustides-Savvopoulou, Persephone and Ruiz Gomez, Angeles and Bari\'{c}, Ivo and Schiff, Manuel and Chien, Yin-Hsiu and Lindner, Martin and Chabrol, Brigitte and Skouma, Anastasia and Zeman, Jiri and Sokal, Etienne and Santer, Ren\'{e} and Eyskens, Francois and Freisinger, Peter and Pe\~{n}a-Quintana, Luis and Roland, Dominique and Cort\`{e}s-Saladelafont, Elisenda and Djordjevic, Maja}, year = {2020}, pages = {13}, DOI = {10.1038/s41598-020-67496-3}, chapter = {11948}, keywords = {urea cycle disorders, medical management, growth, weight}, journal = {Scientific Reports}, doi = {10.1038/s41598-020-67496-3}, volume = {10}, number = {1}, issn = {2045-2322}, title = {Long-term effects of medical management on growth and weight in individuals with urea cycle disorders}, keyword = {urea cycle disorders, medical management, growth, weight}, chapternumber = {11948} }

Časopis indeksira:


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

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