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Year Number of Results
1992 1
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2003 1
2004 1
2008 1
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2015 2
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2018 1
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2020 1
2023 0

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Page 1
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Häberle J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. J Inherit Metab Dis. 2019. PMID: 30982989 Review.
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). With 1:35 000 estimated incidence, UCDs cause hyperammonemia of neonatal (~50%) or late onset that can lead to intellectual disability o …
In 2012, we published guidelines summarizing and evaluating late 2011 evidence for diagnosis and therapy of urea cycle disorders (UCDs). Wit …
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder of the urea cycle. ...HHH syndrome enters in the differential diagnosis with other inherited or acquired condition …
BACKGROUND: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessi …
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and type II, Argininosucc …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), …
Ornithine and its role in metabolic diseases: An appraisal.
Sivashanmugam M, J J, V U, K N S. Sivashanmugam M, et al. Biomed Pharmacother. 2017 Feb;86:185-194. doi: 10.1016/j.biopha.2016.12.024. Epub 2016 Dec 12. Biomed Pharmacother. 2017. PMID: 27978498 Review.
Ornithine also plays an important role in the regulation of several metabolic processes leading to diseases like hyperorithinemia, hyperammonemia, gyrate atrophy and cancer in humans. However, the mechanism of action behind the multi-faceted roles of ornithine is yet to be …
Ornithine also plays an important role in the regulation of several metabolic processes leading to diseases like hyperorithinemia, hypera …
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F, Scarcia P, Monné M. Palmieri F, et al. Biomolecules. 2020 Apr 23;10(4):655. doi: 10.3390/biom10040655. Biomolecules. 2020. PMID: 32340404 Free PMC article. Review.
Examples of diseases, due to mitochondrial carrier mutations are: combined D-2- and L-2-hydroxyglutaric aciduria, carnitine-acylcarnitine carrier deficiency, hyperornithinemia-hyperammonemia-homocitrillinuria (HHH) syndrome, early infantile epileptic e …
Examples of diseases, due to mitochondrial carrier mutations are: combined D-2- and L-2-hydroxyglutaric aciduria, carnitine-acylcarnitine ca …
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J. Joncquel-Chevalier Curt M, et al. Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2. Biochimie. 2015. PMID: 26542286 Review.
Mitochondrial transporters of the SLC25 family and associated diseases: a review.
Palmieri F. Palmieri F. J Inherit Metab Dis. 2014 Jul;37(4):565-75. doi: 10.1007/s10545-014-9708-5. Epub 2014 May 6. J Inherit Metab Dis. 2014. PMID: 24797559 Review.
The mutations of SLC25 carrier genes involved in other cellular functions cause carnitine/acylcarnitine carrier deficiency, HHH syndrome, aspartate/glutamate isoform 1 and 2 deficiencies, congenital Amish microcephaly, neuropathy with bilateral striatal necrosis, co …
The mutations of SLC25 carrier genes involved in other cellular functions cause carnitine/acylcarnitine carrier deficiency, HHH sy …
The mitochondrial transporter family (SLC25): physiological and pathological implications.
Palmieri F. Palmieri F. Pflugers Arch. 2004 Feb;447(5):689-709. doi: 10.1007/s00424-003-1099-7. Epub 2003 Nov 4. Pflugers Arch. 2004. PMID: 14598172 Review.
At the same time, the cloning and functional identification of many SLC25 genes has made it possible (i) to identify the genes (and their defects) responsible for some diseases, e.g. Stanley syndrome and Amish microcephaly, and (ii) where the genes were already known, to c …
At the same time, the cloning and functional identification of many SLC25 genes has made it possible (i) to identify the genes (and their de …
14 results