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Year | Number of Results |
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2010 | 1 |
2016 | 2 |
2018 | 1 |
2020 | 2 |
2022 | 1 |
2024 | 0 |
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Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Mol Genet Metab. 2020 Dec;131(4):390-397. doi: 10.1016/j.ymgme.2020.10.013. Epub 2020 Nov 7.
Mol Genet Metab. 2020.
PMID: 33288448
Free PMC article.
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.
Chen HA, Hsu RH, Chen YH, Hsu LW, Chiang SC, Lee NC, Hwu WL, Chiu PC, Chien YH.
Chen HA, et al.
Mol Genet Metab. 2022 Aug;136(4):330-336. doi: 10.1016/j.ymgme.2022.06.007. Epub 2022 Jun 29.
Mol Genet Metab. 2022.
PMID: 35798653
Item in Clipboard
Diagnosis of citrullinemia type 1 carriage after identification of mild citrullinemia on neonatal screening.
Sugawara D, Taniguchi S, Sato H, Ichihashi K.
Sugawara D, et al.
Pediatr Int. 2018 Apr;60(4):383-384. doi: 10.1111/ped.13515. Epub 2018 Mar 23.
Pediatr Int. 2018.
PMID: 29573057
No abstract available.
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Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
Lipiński P, Jurkiewicz D, Ciara E, Płoski R, Więcek S, Bogdańska A, Stradomska T, Socha P, Rokicki D, Tylki-Szymańska A, Jankowska I.
Lipiński P, et al.
Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202.
Acta Biochim Pol. 2020.
PMID: 32436673
Free article.
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Expanded newborn screening: reducing harm, assessing benefit.
Wilcken B.
Wilcken B.
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S205-10. doi: 10.1007/s10545-010-9106-6. Epub 2010 May 4.
J Inherit Metab Dis. 2010.
PMID: 20440650
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Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
Diez-Fernandez C, Wellauer O, Gemperle C, Rüfenacht V, Fingerhut R, Häberle J.
Diez-Fernandez C, et al.
J Med Genet. 2016 Oct;53(10):710-9. doi: 10.1136/jmedgenet-2016-103937. Epub 2016 Jun 10.
J Med Genet. 2016.
PMID: 27287393
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.
Posset R, et al.
J Inherit Metab Dis. 2016 Sep;39(5):661-672. doi: 10.1007/s10545-016-9938-9. Epub 2016 Apr 22.
J Inherit Metab Dis. 2016.
PMID: 27106216
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