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Select item 63954311.

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri

Front Neurol. 2019; 10: 131. Published online 2019 Feb 22. doi: 10.3389/fneur.2019.00131

PMCID:: PMC6395431

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Select item 50592042.

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

Mara Doimo, Raffaele Lopreiato, Valentina Basso, Raissa Bortolotto, Alessandra Tessa, Filippo M. Santorelli, Eva Trevisson, Leonardo Salviati

JIMD Rep. 2016; 28: 119–126. Published online 2015 Nov 21. doi: 10.1007/8904_2015_514

PMCID:: PMC5059204

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Select item 40154183.

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

Nagehan Ersoy Tunalı, Carlo M.T. Marobbio, N. Ozan Tiryakioğlu, Giuseppe Punzi, Seha K. Saygılı, Hasan Önal, Ferdinando Palmieri

Mol Genet Metab. 2014 May; 112(1): 25–29. doi: 10.1016/j.ymgme.2014.03.002

PMCID:: PMC4015418

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Select item 32669374.

Insights into the Mutation-Induced HHH Syndrome from Modeling Human Mitochondrial Ornithine Transporter-1

Jing-Fang Wang, Kuo-Chen Chou

PLoS One. 2012; 7(1): e31048. Published online 2012 Jan 26. doi: 10.1371/journal.pone.0031048

PMCID:: PMC3266937

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Select item 97308835.

Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene

Imad Dweikat, Reham Khalaf-Nazzal

Front Genet. 2022; 13: 1004598. Published online 2022 Nov 24. doi: 10.3389/fgene.2022.1004598

PMCID:: PMC9730883

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Select item 91968776.

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

Silene M. Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Johannes Häberle, Adriana Gruppi, Laura E. Larovere, Ruben D. Motrich

Front Immunol. 2022; 13: 861516. Published online 2022 May 27. doi: 10.3389/fimmu.2022.861516

PMCID:: PMC9196877

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Select item 89077817.

Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Yumi Hoshino, Minori Kodaira, Atsuhiro Matsuno, Tomoki Kaneko, Tetsuhiro Fukuyama, Kyoko Takano, Masahide Yazaki, Yoshiki Sekijima

Intern Med. 2022 Feb 15; 61(4): 553–557. Published online 2021 Aug 24. doi: 10.2169/internalmedicine.7843-21

PMCID:: PMC8907781

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Select item 85661598.

Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!

Meranthi Fernando, Suresh Vijay, Saikat Santra, Mary A Preece, Rachel Brown, Astor Rodrigues, Girish L Gupte

Euroasian J Hepatogastroenterol. 2021 Jul-Dec; 11(2): 100–102. doi: 10.5005/jp-journals-10018-1351

PMCID:: PMC8566159

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Select item 82526749.

Role of early management of hyperornithinaemia‐hyperammonaemia‐homocitrullinuria syndrome in pregnancy

Matthew James Billingham, Rania Rizk

BMJ Case Rep. 2021; 14(7): e241424. Published online 2021 Jul 1. doi: 10.1136/bcr-2020-241424

PMCID:: PMC8252674

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Select item 739837010.

Protective effect of unilateral vasospasm in the setting of HHH-associated posterior reversible encephalopathy syndrome: case report, review of the literature, and treatment considerations

Alankrita Raghavan, Jordan Xu, James M. Wright, Christina Huang Wright, Benjamin Miller, Yin Hu

Chin Neurosurg J. 2018; 4: 34. Published online 2018 Dec 3. doi: 10.1186/s41016-018-0141-8

PMCID:: PMC7398370

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Select item 670817911.

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici

Orphanet J Rare Dis. 2019; 14: 208. Published online 2019 Aug 23. doi: 10.1186/s13023-019-1181-7

PMCID:: PMC6708179

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Select item 649886612.

Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature

Bernice Ho, Jennifer MacKenzie, Jagdeep Walia, Michael Geraghty, Graeme Smith, Julie Nedvidek, Andrea Guerin

JIMD Rep. 2019 Mar; 46(1): 28–34. Published online 2019 Mar 14. doi: 10.1002/jmd2.12025

PMCID:: PMC6498866

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Select item 632301113.

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia

Katherine Taylor Wild, Rebecca D. Ganetzky, Marc Yudkoff, Lynne Ierardi-Curto

JIMD Rep. 2019; 44: 103–107. Published online 2018 Sep 6. doi: 10.1007/8904_2018_132

PMCID:: PMC6323011

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Select item 615118914.

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report

Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt

J Med Case Rep. 2018; 12: 274. Published online 2018 Sep 23. doi: 10.1186/s13256-018-1794-9

PMCID:: PMC6151189

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Select item 435869915.

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi-Vici

Orphanet J Rare Dis. 2015; 10: 29. Published online 2015 Mar 11. doi: 10.1186/s13023-015-0242-9

PMCID:: PMC4358699

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Select item 722636116.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review

Ferdinando Palmieri, Pasquale Scarcia, Magnus Monné

Biomolecules. 2020 Apr; 10(4): 655. Published online 2020 Apr 23. doi: 10.3390/biom10040655

PMCID:: PMC7226361

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Select item 885909817.

Effects of Carbon Dioxide and Temperature on the Oxygen-Hemoglobin Dissociation Curve of Human Blood: Implications for Avalanche Victims

Simon Woyke, Hermann Brugger, Mathias Ströhle, Thomas Haller, Hannes Gatterer, Tomas Dal Cappello, Giacomo Strapazzon

Front Med (Lausanne) 2021; 8: 808025. Published online 2022 Feb 7. doi: 10.3389/fmed.2021.808025

PMCID:: PMC8859098

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Select item 834996818.

Neurophysiological characteristics in argininemia: a case report

Bin Cui, Lin Wei, Zhi-Jun Zhu, Li-Ying Sun

Transl Pediatr. 2021 Jul; 10(7): 1947–1951. doi: 10.21037/tp-21-112

PMCID:: PMC8349968

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Select item 800623219.

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, Bruno Maranda

Int J Neonatal Screen. 2021 Mar; 7(1): 18. Published online 2021 Mar 20. doi: 10.3390/ijns7010018

PMCID:: PMC8006232

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Select item 733322720.

Histiocytic hyperplasia with hemophagocytosis and acute alveolar damage in COVID-19 infection

Laura Prieto-Pérez, José Fortes, Carlos Soto, Ánxela Vidal-González, Marina Alonso-Riaño, Miguel Lafarga, María José Cortti, Alberto Lazaro-Garcia, Ramón Pérez-Tanoira, Álvaro Trascasa, Anabel Antonio, Raúl Córdoba, Socorro María Rodríguez-Pinilla, Oderay Cedeño, Germán Peces-Barba, Itziar Fernández-Ormaechea, María José Díez Medrano, Marta López de Las Heras, Alfonso Cabello, Elizabet Petkova, Beatriz Álvarez, Irene Carrillo, Andrés M. Silva, Marina Castellanos, Silvia Calpena, Marcela Valverde-Monge, Diana Fresneda, Rafael Rubio-Martín, Ignacio Cornejo, Laura Astilleros Blanco de Cordova, Soraya de la Fuente, Sheila Recuero, Miguel Górgolas, Miguel A. Piris

Mod Pathol. 2020 Nov; 33(11): 2139–2146. Published online 2023 Jan 5. doi: 10.1038/s41379-020-0613-1

PMCID:: PMC7333227

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