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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
[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
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
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
Dysmyelination revisited.
Poser CM.
Arch Neurol. 1978 Jul;35(7):401-8. doi: 10.1001/archneur.1978.00500310003001.
PMID:352308
The aminoacidopathies.
Hsia DY.
Monogr Hum Genet. 1972;6:10-21. doi: 10.1159/000392663.
PMID:4197614
Demographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015.
Najafi R, Hashemipour M, Yaghini O, Najafi F, Rashidianfar A.
Indian J Endocrinol Metab. 2016 Sep-Oct;20(5):679-683. doi: 10.4103/2230-8210.190556.
PMID:27730080
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