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Year | Number of Results |
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1991 | 1 |
2012 | 1 |
2020 | 1 |
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Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
Orphanet J Rare Dis. 2023 Sep 4;18(1):265. doi: 10.1186/s13023-023-02840-0.
Orphanet J Rare Dis. 2023.
PMID: 37667371
Free PMC article.
Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders.
Dong C, Song Z, Meng X, Sun C, Wang K, Yang Y, Qin H, Han C, Zhang F, Zheng W, Gao W.
Dong C, et al.
Pediatr Surg Int. 2020 Dec;36(12):1443-1450. doi: 10.1007/s00383-020-04756-3. Epub 2020 Oct 10.
Pediatr Surg Int. 2020.
PMID: 33040172
PURPOSE: To investigate the efficacy of living donor liver transplantation (LDLT) plus domino-auxiliary partial orthotopic liver transplantation (D-APOLT) in pediatric patients with metabolic disorders. METHODS: From May 2017 to October 2018, two patients with ornithine …
PURPOSE: To investigate the efficacy of living donor liver transplantation (LDLT) plus domino-auxiliary partial orthotopic liver transplanta …
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Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.
Vatanavicharn N, Ratanarak P, Liammongkolkul S, Sathienkijkanchai A, Wasant P.
Vatanavicharn N, et al.
Clin Chim Acta. 2012 Jul 11;413(13-14):1141-4. doi: 10.1016/j.cca.2012.03.014. Epub 2012 Mar 23.
Clin Chim Acta. 2012.
PMID: 22465081
RESULTS: Fifty-eight patients were diagnosed with amino acid disorders, including 20 cases (34.5%) with maple syrup urine disease, 13 (22.4%) with phenylketonuria and hyperphenylalaninemia, 13 (22.4%) with nonketotic hyperglycinemia, 9 (15.5%) with urea cycle defects, 2 (3.4%) wi …
RESULTS: Fifty-eight patients were diagnosed with amino acid disorders, including 20 cases (34.5%) with maple syrup urine disease, 13 (22.4% …
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Gyrate atrophy of the choroid and retina in a 5-year-old girl.
Mehta MC, Katsumi O, Shih VE, Hirose T.
Mehta MC, et al.
Acta Ophthalmol (Copenh). 1991 Dec;69(6):810-4. doi: 10.1111/j.1755-3768.1991.tb02067.x.
Acta Ophthalmol (Copenh). 1991.
PMID: 1789102
Serum ornithine level was assayed at 841 mumol/l, ten times normal levels, and a diagnosis of gyrate atrophy, due to ornithine aminotransferase deficiency was made. The patient was refractory to any form of therapy and her clinical lesions spread rapidly in b …
Serum ornithine level was assayed at 841 mumol/l, ten times normal levels, and a diagnosis of gyrate atrophy, due to ornithine ami …
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