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Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. [electronic resource] by
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- Guerrini, R
- Moro, F
- Fernandez-Alvarez, E
- Livet, M O
- Renieri, A
- Cioni, M
- Pilz, D T
- Veggiotti, P
- Rossi, E
- Ballabio, A
- Carrozzo, R
Producer: 19990329
In:
Annals of neurology vol. 45
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Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency. [electronic resource] by
- Ortez, C
- Duarte, S T
- Ormazábal, A
- Serrano, M
- Pérez, A
- Pons, R
- Pineda, M
- Yapici, Z
- Fernández-Álvarez, E
- Domingo-Jiménez, R
- De Castro, P
- Artuch, R
- García-Cazorla, A
Producer: 20150807
In:
Molecular genetics and metabolism vol. 114
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105.
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Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. [electronic resource] by
- Busquets, C
- Merinero, B
- Christensen, E
- Gelpí, J L
- Campistol, J
- Pineda, M
- Fernández-Alvarez, E
- Prats, J M
- Sans, A
- Arteaga, R
- Martí, M
- Campos, J
- Martínez-Pardo, M
- Martínez-Bermejo, A
- Ruiz-Falcó, M L
- Vaquerizo, J
- Orozco, M
- Ugarte, M
- Coll, M J
- Ribes, A
Producer: 20010208
In:
Pediatric research vol. 48
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[Rett's syndrome in the Spanish population]. [electronic resource] by
- Pineda, M
- Aracil, A
- Vernet, A
- Espada, M
- Cobo, E
- Arteaga, R
- Artigas, J
- Barrionuevo, C
- Bautista-González, L
- Berenguer-Molla, R
- Caballero, J
- Cabrera, J
- Campistol, J
- Campos, J
- Casas-Fernández, C
- Castelló, M
- Castro-Gago, M
- Castroviejo, P
- Colomer, J
- Delgado, P
- Domingo, R
- Domínguez-Jiménez, A
- Fernández-Alvarez, E
- García-Aymerich, J
- Vidal, R
Producer: 19990607
In:
Revista de neurologia vol. 28
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GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. [electronic resource] by
- Mercimek-Mahmutoglu, S
- Stoeckler-Ipsiroglu, S
- Adami, A
- Appleton, R
- Araújo, H Caldeira
- Duran, M
- Ensenauer, R
- Fernandez-Alvarez, E
- Garcia, P
- Grolik, C
- Item, C B
- Leuzzi, V
- Marquardt, I
- Mühl, A
- Saelke-Kellermann, R A
- Salomons, G S
- Schulze, A
- Surtees, R
- van der Knaap, M S
- Vasconcelos, R
- Verhoeven, N M
- Vilarinho, L
- Wilichowski, E
- Jakobs, C
Producer: 20060906
In:
Neurology vol. 67
Availability: No items available.
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