Works matching IS 01418955 AND DT 2019 AND VI 42 AND IP 6

Results: 16

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1097, doi. 10.1002/jimd.12061
By:
- Soria, Leandro R.;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1105, doi. 10.1002/jimd.12108
By:
- Brambilla, Alessandra;
- Bianchi, Maria L.;
- Cancello, Raffaella;
- Galimberti, Cinzia;
- Gasperini, Serena;
- Pretese, Roberta;
- Rigoldi, Miriam;
- Tursi, Serena;
- Parini, Rossella
Publication type:
Article
Challenges in diagnosing and managing adult patients with urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1136, doi. 10.1002/jimd.12096
By:
- Stepien, Karolina M.;
- Geberhiwot, Tarekegn;
- Hendriksz, Christian J.;
- Treacy, Eileen P.
Publication type:
Article
Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1128, doi. 10.1002/jimd.12070
By:
- Soria, Leandro R.;
- Nitzahn, Matthew;
- De Angelis, Angela;
- Khoja, Suhail;
- Attanasio, Sergio;
- Annunziata, Patrizia;
- Palmer, Donna J.;
- Ng, Philip;
- Lipshutz, Gerald S.;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1147, doi. 10.1002/jimd.12047
By:
- Baruteau, Julien;
- Diez‐Fernandez, Carmen;
- Lerner, Shaul;
- Ranucci, Giusy;
- Gissen, Paul;
- Dionisi‐Vici, Carlo;
- Nagamani, Sandesh;
- Erez, Ayelet;
- Häberle, Johannes
Publication type:
Article
Editorial.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1041, doi. 10.1002/jimd.12179
By:
- Häberle, Johannes;
- Thöny, Beat
Publication type:
Article
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1176, doi. 10.1002/jimd.12146
By:
- Waisbren, Susan E.;
- Stefanatos, Arianna K.;
- Kok, Teresa M. Y.;
- Ozturk‐Hismi, Burcu
Publication type:
Article
Chronic liver involvement in urea cycle disorders.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1118, doi. 10.1002/jimd.12144
By:
- Ranucci, Giusy;
- Rigoldi, Miriam;
- Cotugno, Giovanna;
- Bernabei, Silvia Maria;
- Liguori, Alessandra;
- Gasperini, Serena;
- Goffredo, Bianca Maria;
- Martinelli, Diego;
- Monti, Lidia;
- Francalanci, Paola;
- Candusso, Manila;
- Parini, Rossella;
- Dionisi‐Vici, Carlo
Publication type:
Article
AMP‐activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1088, doi. 10.1002/jimd.12133
By:
- Heibel, Sandra K.;
- McGuire, Peter J.;
- Haskins, Nantaporn;
- Majumdar, Himani D.;
- Rayavarapu, Sree;
- Nagaraju, Kanneboyina;
- Hathout, Yetrib;
- Brown, Kristy;
- Tuchman, Mendel;
- Caldovic, Ljubica
Publication type:
Article
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1162, doi. 10.1002/jimd.12066
By:
- Molema, Femke;
- Gleich, Florian;
- Burgard, Peter;
- Ploeg, Ans T.;
- Summar, Marshall L.;
- Chapman, Kimberly A.;
- Barić, Ivo;
- Lund, Allan M.;
- Kölker, Stefan;
- Williams, Monique;
- Hörster, F.;
- Jelsig, A.M.;
- Lonlay, P.;
- Wijburg, F.A.;
- Bosch, A.;
- Freisinger, P.;
- Posset, R.;
- Augoustides‐Savvopoulou, P.;
- Avram, P.;
- Deleanu, C.
Publication type:
Article
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1192, doi. 10.1002/jimd.12100
By:
- Häberle, Johannes;
- Burlina, Alberto;
- Chakrapani, Anupam;
- Dixon, Marjorie;
- Karall, Daniela;
- Lindner, Martin;
- Mandel, Hanna;
- Martinelli, Diego;
- Pintos‐Morell, Guillem;
- Santer, René;
- Skouma, Anastasia;
- Servais, Aude;
- Tal, Galit;
- Rubio, Vicente;
- Huemer, Martina;
- Dionisi‐Vici, Carlo
Publication type:
Article
A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1054, doi. 10.1002/jimd.12067
By:
- Srinivasan, Raghuraman C.;
- Zabulica, Mihaela;
- Hammarstedt, Christina;
- Wu, Tingting;
- Gramignoli, Roberto;
- Kannisto, Kristina;
- Ellis, Ewa;
- Karadagi, Ahmad;
- Fingerhut, Ralph;
- Allegri, Gabriella;
- Rüfenacht, Véronique;
- Thöny, Beat;
- Häberle, Johannes;
- Nuoffer, Jean‐Marc;
- Strom, Stephen C.
Publication type:
Article
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three‐dimensional organotypic brain cell cultures.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1077, doi. 10.1002/jimd.12090
By:
- Diez‐Fernandez, Carmen;
- Hertig, Damian;
- Loup, Marc;
- Diserens, Gaelle;
- Henry, Hugues;
- Vermathen, Peter;
- Nuoffer, Jean‐Marc;
- Häberle, Johannes;
- Braissant, Olivier
Publication type:
Article
A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1044, doi. 10.1002/jimd.12048
By:
- Khoja, Suhail;
- Nitzahn, Matthew;
- Truong, Brian;
- Lambert, Jenna;
- Willis, Brandon;
- Allegri, Gabriella;
- Rüfenacht, Véronique;
- Häberle, Johannes;
- Lipshutz, Gerald S.
Publication type:
Article
Comprehensive characterization of ureagenesis in the spf<sup>ash</sup> mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1064, doi. 10.1002/jimd.12068
By:
- Allegri, Gabriella;
- Deplazes, Sereina;
- Rimann, Nicole;
- Causton, Benjamin;
- Scherer, Tanja;
- Leff, Jonathan W.;
- Diez‐Fernandez, Carmen;
- Klimovskaia, Anna;
- Fingerhut, Ralph;
- Krijt, Jakub;
- Kožich, Viktor;
- Nuoffer, Jean‐Marc;
- Grisch‐Chan, Hiu M.;
- Thöny, Beat;
- Häberle, Johannes
Publication type:
Article
Issue Information.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. N.PAG, doi. 10.1002/jimd.12005
Publication type:
Article