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

Results: 16

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

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

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

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

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

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

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

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

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

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

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

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