Hyperammonemia and inborn errors of metabolism

被引：0

作者：

Corado, Andres Morales ^{[1
]}

机构：

[1] Columbia Univ, Dept Pediat, Div Clin Genet, Vagelos Coll Phys & Surg, 3959 Broadway, 7N, 718, New York, NY 10032 USA

来源：

TRANSLATIONAL PEDIATRICS | 2024年 / 13卷 / 02期

关键词：

Hyperammonemia; inborn errors of metabolism (IEM); citrin deficiency; management;

D O I：

10.21037/tp-23-593

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：200 / 202

页数：3

共 18 条

[1] mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency [J].

Cao, Jingsong ;

An, Ding ;

Galduroz, Mikel ;

Zhuo, Jenny ;

Liang, Shi ;

Eybye, Marianne ;

Frassetto, Andrea ;

Kuroda, Eishi ;

Funahashi, Aki ;

Santana, Jordan ;

Mihai, Cosmin ;

Benenato, Kerry E. ;

Kumarasinghe, E. Sathyajith ;

Sabnis, Staci ;

Salerno, Timothy ;

Coughlan, Kimberly ;

Miracco, Edward J. ;

Levy, Becca ;

Besin, Gilles ;

Schultz, Joshua ;

Lukacs, Christine ;

Guey, Lin ;

Finn, Patrick ;

Furukawa, Tatsuhiko ;

Giangrande, Paloma H. ;

Saheki, Takeyori ;

Martini, Paolo G. V. .

MOLECULAR THERAPY, 2019, 27 (07) :1242-1251

[2] Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia [J].

Chandler, Randy J. ;

Di Pasquale, Giovanni ;

Choi, Eun-Young ;

Chang, David ;

Smith, Stephanie N. ;

Sloan, Jennifer L. ;

Hoffmann, Victoria ;

Li, Lina ;

Chiorini, John A. ;

Venditti, Charles P. .

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT, 2023, 30 :181-190

[3] Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future [J].

Chandler, Randy J. ;

Venditti, Charles P. .

HUMAN GENE THERAPY, 2019, 30 (10) :1236-1244

[4] PLASMA AMMONIA CONCENTRATIONS IN NEWBORNS AND CHILDREN [J].

COLOMBO, JP ;

PEHEIM, E ;

KRETSCHMER, R ;

DAUWALDER, H ;

SIDIROPOULOS, D .

CLINICA CHIMICA ACTA, 1984, 138 (03) :283-291

[5] Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters [J].

Dercksen, M. ;

Ijlst, L. ;

Duran, M. ;

Mienie, L. J. ;

van Cruchten, A. ;

van der Westhuizen, F. H. ;

Wanders, R. J. A. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2014, 1842 (12) :2510-2516

[6]

Haberle Johannes, 2020, J Mother Child, V24, P32, DOI 10.34763/jmotherandchild.20202402si.2015.000006

[7] Clinical and biochemical aspects of primary and secondary hyperammonemic disorders [J].

Haeberle, Johannes .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 2013, 536 (02) :101-108

[8]

Li MLY, 2025, TRANSL LUNG CANCER R, V14, P323, DOI [10.21037/tcr-24-1596, 10.21037/tlcr-24-854, 10.21037/tp-22-359]

[9] A glance at transient hyperammonemia of the newborn: Pathophysiology, diagnosis, and treatment: A review [J].

Ni, Beibei ;

Qin, Miao ;

Zhao, Jun ;

Guo, Qie .

MEDICINE, 2022, 101 (48) :E31796

[10] Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy [J].

Raina, Rupesh ;

Bedoyan, Jirair K. ;

Lichter-Konecki, Uta ;

Jouvet, Philippe ;

Picca, Stefano ;

Mew, Nicholas Ah ;

Machado, Marcel C. ;

Chakraborty, Ronith ;

Vemuganti, Meghana ;

Grewal, Manpreet K. ;

Bunchman, Timothy ;

Sethi, Sidharth Kumar ;

Krishnappa, Vinod ;

McCulloch, Mignon ;

Alhasan, Khalid ;

Bagga, Arvind ;

Basu, Rajit K. ;

Schaefer, Franz ;

Filler, Guido ;

Warady, Bradley A. .

NATURE REVIEWS NEPHROLOGY, 2020, 16 (08) :471-482

← 1 2 →