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ArticlesPeer ReviewedFull Text
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1
Author / Creator:Wang, Jing-Fang ; Chou, Kuo-Chen
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-01, Vol.7 (1), p.e31048-e31048
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CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
Author / Creator:Martinelli, Diego ; Fiermonte, Giuseppe ; Häberle, Johannes ; Boenzi, Sara ; Goffredo, Bianca Maria ; Travaglini, Lorena ; Agolini, Emanuele ; Porcelli, Vito ; Dionisi-Vici, Carlo
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.982-987
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Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Author / Creator:Olivieri, Giorgia ; Pro, Stefano ; Diodato, Daria ; Di Capua, Matteo ; Longo, Daniela ; Martinelli, Diego ; Bertini, Enrico ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.208-208, Article 208
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HHH syndrome
Publisher:Oxford University Press
Journal title:A Dictionary of Biomedicine, 2019
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Urea Cycle Disorder Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome in an Adult Unmasked by Physical Exertion and Protein Supplements
Author / Creator:Pham, Ly-Elaine ; Khan, Kashif ; Singh, Neeraj ; Bienvenu, John ; Boktor, Moheb ; Manas, Kenneth ; Minocha, Anil ; Singh, Tejinder ; Mosallati, Adam ; Monaco, Brian ; Palmer, Ryan ; Mendoza, Mardeli ; Alexander, Jonathan Steven ; Morris, James ; Paul, Jordan ; Samant, Hrishikesh
Publisher:New York: Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins
Journal title:The American journal of gastroenterology, 2018-10, Vol.113, p.S1303-S1303
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Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysf...
Author / Creator:Zanatta, Ângela ; Rodrigues, Marília Danyelle Nunes ; Amaral, Alexandre Umpierrez ; Souza, Débora Guerini ; Quincozes-Santos, André ; Wajner, Moacir
Publisher:New York: Springer US
Journal title:Neurochemical research, 2016-09, Vol.41 (9), p.2190-2198
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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan
Author / Creator:Sokoro, AbdulRazaq A. H. ; Lepage, Joyce ; Antonishyn, Nick ; McDonald, Ryan ; Rockman-Greenberg, Cheryl ; Irvine, James ; Lehotay, Denis C.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.275-281
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HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation
Author / Creator:Fecarotta, S. ; Parenti, G. ; Vajro, P. ; Zuppaldi, A. ; Casa, R. Della ; Carbone, M. T. ; Correra, A. ; Torre, G. ; Riva, S. ; Dionisi‐Vici, C. ; Santorelli, F. M. ; Andria, G.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.186-189
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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition
Author / Creator:Filosto, Massimiliano ; Alberici, Antonella ; Tessa, Alessandra ; Padovani, Alessandro ; Santorelli, Filippo M.
Publisher:Milan: Springer Milan
Journal title:Neurological sciences, 2013-09, Vol.34 (9), p.1699-1701
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The Human and Mouse SLC25A29 Mitochondrial Transporters Rescue the Deficient Ornithine Metabolism in Fibroblasts of Patients With the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome
Author / Creator:Camacho, Josée A ; Rioseco-Camacho, Natalia
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2009-07, Vol.66 (1), p.35-41
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Reference EntriesFull Text
HHH syndrome
Publisher:Oxford University Press
Journal title:A Dictionary of Biomedicine, 2010
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Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry
Author / Creator:Al-Dirbashi, Osama Y ; Al-Hassnan, Zuhair N ; Rashed, Mohamed S
Publisher:Germany: Springer-Verlag
Journal title:Analytical and bioanalytical chemistry, 2006-12, Vol.386 (7-8), p.2013-2017
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Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients
Author / Creator:Nguyen, Khanh Ngoc ; Tran, Van Khanh ; Nguyen, Ngoc Lan ; Can, Thi Bich Ngoc ; Dang, Thi Kim Giang ; Nguyen, Thu Ha ; Do, Thi Thanh Mai ; Phuong, Le Thi ; Tran, Thinh Huy ; Ta, Thanh Van ; Tu, Nguyen Huu ; Vu, Chi Dung
Publisher:Switzerland: MDPI AG
Journal title:Medicina (Kaunas, Lithuania), 2024-11, Vol.60 (11), p.1877
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Reference EntriesFull Text
HHH syndrome
Publisher:Oxford University Press
Journal title:Oxford Dictionary of Biochemistry and Molecular Biology, 2006
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Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X
Author / Creator:Miyamoto, T. ; Kanazawa, N. ; Kato, S. ; Kawakami, M. ; Inoue, Y. ; Kuhara, T. ; Inoue, T. ; Takeshita, K. ; Tsujino, S.
Publisher:Tokyo: Springer-Verlag
Journal title:Journal of human genetics, 2001-01, Vol.46 (5), p.260-262
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HHH syndrome associated with callosal agenesis and disordered neuronal migration
Author / Creator:Gallagher, Andrew C ; Pike, Michael ; Standing, Sue
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2001-06, Vol.43 (6), p.430a-431
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HHH syndrome associated with callosal agenesis and disordered neuronal migration
Author / Creator:Gallagher, Andrew C ; Pike, Michael ; Standing, Sue
Publisher:Cambridge, UK: Cambridge University Press
Journal title:Developmental medicine and child neurology, 2001-06, Vol.43 (6), p.428-432
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Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia
Author / Creator:Mühling, J ; Dehne, M G ; Fuchs, M ; Sablotzki, A ; Weiss, S ; Spatz, J ; Hempelmann, G
Publisher:Austria: Springer Nature B.V
Journal title:Amino acids, 2001-01, Vol.21 (3), p.303-318
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Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature
Author / Creator:Ho, Bernice ; MacKenzie, Jennifer ; Walia, Jagdeep ; Geraghty, Michael ; Smith, Graeme ; Nedvidek, Julie ; Guerin, Andrea
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2019-03, Vol.46 (1), p.28-34
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Bambino Gesu Children's Hospital Reports Findings in Hereditary Spastic Paraplegia (Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia)
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2019, p.490
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Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1

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CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

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

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HHH syndrome

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Urea Cycle Disorder Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome in an Adult Unmasked by Physical Exertion and Protein Supplements

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Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysf...

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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan

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HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation

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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

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The Human and Mouse SLC25A29 Mitochondrial Transporters Rescue the Deficient Ornithine Metabolism in Fibroblasts of Patients With the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome

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HHH syndrome

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Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry

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Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome in Vietnamese Patients

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HHH syndrome

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Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X

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HHH syndrome associated with callosal agenesis and disordered neuronal migration

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HHH syndrome associated with callosal agenesis and disordered neuronal migration

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Conscientious metabolic monitoring on a patient with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome undergoing anaesthesia

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

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Bambino Gesu Children's Hospital Reports Findings in Hereditary Spastic Paraplegia (Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia)

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