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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
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
HYPERLYSINEMIA.
WOODY NC.
Am J Dis Child. 1964 Nov;108:543-53. doi: 10.1001/archpedi.1964.02090010545015.
PMID:14209691
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 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
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 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
[Hyperlysinemia and hyperammonemia].
Rabier D, Parvy P, Bardet J, Kamoun P.
Ann Biol Clin (Paris). 1991;49(1):45-8.
PMID:1904697
The prognosis of hyperlysinemia: an interim report.
Dancis J, Hutzler J, Ampola MG, Shih VE, van Gelderen HH, Kirby LT, Woody NC.
Am J Hum Genet. 1983 May;35(3):438-42.
PMID:6407303
[Familial hyperlysinemia(alpha-aminoadipic semialdehyde synthase defect)].
Oyanagi K, Nagao M.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):188-90.
PMID:9590024
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