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aminoacidopathy相关文献:
Phenylketonuria.
Stone WL, Basit H, Los E.
2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:30570999
A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.
Odeh M, Sajrawi C, Majcher A, Zubedat S, Shaulov L, Radzishevsky A, Mizrahi L, Chung WK, Avital A, Hornemann T, Liebl DJ, Radzishevsky I, Wolosker H.
Brain. 2024 Nov 4;147(11):3874-3889. doi: 10.1093/brain/awae134.
PMID:38662784
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á, Palomino Pérez L, Ruiz-Sala P, Navarrete R, Cambra Conejero A, Quijada Fraile P, Moráis López A, Belanger-Quintana A, Martín-Hernández E, Bellusci M, Cañedo Villaroya E, Chumillas Calzada S, García Silva MT, Bergua Martínez A, Stanescu S, Martínez-Pardo Casanova M, Ruano MLF, Ugarte M, Pérez B, Pedrón-Giner C.
JIMD Rep. 2022 Jan 27;63(2):146-161. doi: 10.1002/jmd2.12265. eCollection 2022 Mar.
PMID:35281663
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship.
Booth FA, Haworth JC, Dilling LA, Perry TL, Greenberg CR, Seargeant LE, Penn AM, Rhead WJ.
J Pediatr. 1989 Jul;115(1):81-8. doi: 10.1016/s0022-3476(89)80333-6.
PMID:2738799
[Newborn screening in France: news and perspectives].
Gernez E, Roland E, Dhaenens CM, Renom G, Mention K.
Ann Biol Clin (Paris). 2024 Apr 19;82(1):24-31. doi: 10.1684/abc.2024.1869.
PMID:38638016
[Epilepsy and inborn errors of metabolism].
Moya-López S, Ruiz-Colodrero A, Sainz-García J, Fariña-Jara V, García-Jiménez MC, Castejón-Ponce E, López-Pisón J, Pérez-Delgado R.
Rev Neurol. 2024 Sep 29;79(5):129-135. doi: 10.33588/rn.7905.2024088.
PMID:39207127
Neurometabolic diseases of childhood.
Patay Z, Blaser SI, Poretti A, Huisman TA.
Pediatr Radiol. 2015 Sep;45 Suppl 3:S473-84. doi: 10.1007/s00247-015-3279-y. Epub 2015 Sep 7.
PMID:26346153
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy.
Perry TL, Hansen S, Booth FA, Penn AM, Jones K, Dilling LA.
J Inherit Metab Dis. 1989;12(1):23-32. doi: 10.1007/BF01805527.
PMID:2501579
Genetics and metabolic cardiomyopathies.
Wicks EC, Elliott PM.
Herz. 2012 Sep;37(6):598-610. doi: 10.1007/s00059-012-3659-0.
PMID:22936369
Dysmyelination revisited.
Poser CM.
Arch Neurol. 1978 Jul;35(7):401-8. doi: 10.1001/archneur.1978.00500310003001.
PMID:352308
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