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hyperlysinemia 相关文献:
Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update.
Marinella G, Pascarella F, Vetro A, Bonuccelli A, Pochiero F, Santangelo A, Alessandrì MG, Pasquariello R, Orsini A, Battini R.
Seizure. 2024 Aug;120:135-141. doi: 10.1016/j.seizure.2024.06.020. Epub 2024 Jun 24.
PMID:38991296
A case of hyperlysinemia identified by urine newborn screening.
Yeganeh M, Auray-Blais C, Maranda B, Sabovic A, DeVita RJ, Lazarus MB, Houten SM.
JIMD Rep. 2023 Oct 22;64(6):440-445. doi: 10.1002/jmd2.12399. eCollection 2023 Nov.
PMID:37927488
HYPERLYSINEMIA.
WOODY NC.
Am J Dis Child. 1964 Nov;108:543-53. doi: 10.1001/archpedi.1964.02090010545015.
PMID:14209691
Genetic basis of hyperlysinemia.
Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M.
Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57.
PMID:23570448
[Familial hyperlysinemia(alpha-aminoadipic semialdehyde synthase defect)].
Oyanagi K, Nagao M.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):188-90.
PMID:9590024
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology.
Dancis J, Hutzler J, Cox RP.
Am J Hum Genet. 1979 May;31(3):290-9.
PMID:463877
Hyperlysinemia without clinical findings.
Ozalp I, Hasanoğlu A, Tunçbilek E, Yalaz K.
Acta Paediatr Scand. 1981 Nov;70(6):951-3. doi: 10.1111/j.1651-2227.1981.tb06259.x.
PMID:6798824
[HYPERLYSINEMIA].
FREYCON F, FREYCON MT.
Pediatrie. 1965 Mar;20:231-2.
PMID:14347424
Hyperlysinemia associated with retardation.
Ghadimi H, Binnington VI, Pecora P.
N Engl J Med. 1965 Sep 30;273(14):723-9. doi: 10.1056/NEJM196509302731401.
PMID:5825685
Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.
Murray GC, Bais P, Hatton CL, Tadenev ALD, Hoffmann BR, Stodola TJ, Morelli KH, Pratt SL, Schroeder D, Doty R, Fiehn O, John SWM, Bult CJ, Cox GA, Burgess RW.
Hum Mol Genet. 2022 Nov 28;31(23):4055-4074. doi: 10.1093/hmg/ddac151.
PMID:35796562
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