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Congenital disorder of glycosylation (CDG) type Ie. A new patient. [electronic resource] by
- García-Silva, M T
- Matthijs, G
- Schollen, E
- Cabrera, J C
- Sanchez del Pozo, J
- Martí Herreros, M
- Simón, R
- Maties, M
- Martín Hernández, E
- Hennet, T
- Briones, P
Producer: 20050324
In:
Journal of inherited metabolic disease vol. 27
Availability: No items available.
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11.
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Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry. [electronic resource] by
- Fiuza-Luces, C
- Santos-Lozano, A
- García-Silva, M T
- Martín-Hernández, E
- Quijada-Fraile, P
- Marín-Peiró, M
- Campos, P
- Arenas, J
- Lucía, A
- Martín, M A
- Morán, M
Producer: 20180118
In:
Clinical nutrition (Edinburgh, Scotland) vol. 35
Availability: No items available.
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12.
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Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. [electronic resource] by
- Merinero, B
- Pérez-Cerdá, C
- Ruiz Sala, P
- Ferrer, I
- García, M J
- Martínez Pardo, M
- Belanger-Quintana, A
- de la Mota, J L
- Martin-Hernández, E
- Vianey-Saban, C
- Bischoff, C
- Gregersen, N
- Ugarte, M
Producer: 20070117
In:
Journal of inherited metabolic disease vol. 29
Availability: No items available.
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13.
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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. [electronic resource] by
- Martín, M Á
- García-Silva, M T
- Barcia, G
- Delmiro, A
- Rodríguez-García, M E
- Blázquez, A
- Francisco-Álvarez, R
- Martín-Hernández, E
- Quijada-Fraile, P
- Tejada-Palacios, P
- Arenas, J
- Santos, C
- Martínez-Azorín, F
Producer: 20170613
In:
Clinical genetics vol. 91
Availability: No items available.
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14.
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Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. [electronic resource] by
- Merinero, B
- Alcaide, P
- Martín-Hernández, E
- Morais, A
- García-Silva, M T
- Quijada-Fraile, P
- Pedrón-Giner, C
- Dulin, E
- Yahyaoui, R
- Egea, J M
- Belanger-Quintana, A
- Blasco-Alonso, J
- Fernandez Ruano, M L
- Besga, B
- Ferrer-López, I
- Leal, F
- Ugarte, M
- Ruiz-Sala, P
- Pérez, B
- Pérez-Cerdá, C
Publication details: JIMD reports 2018
In:
JIMD reports vol. 39
Availability: No items available.
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15.
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Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. [electronic resource] by
- Cañueto, J
- Girós, M
- Ciria, S
- Pi-Castán, G
- Artigas, M
- García-Dorado, J
- García-Patos, V
- Virós, A
- Vendrell, T
- Torrelo, A
- Hernández-Martín, A
- Martín-Hernández, E
- Garcia-Silva, M T
- Fernández-Burriel, M
- Rosell, J
- Tejedor, M
- Martínez, F
- Valero, J
- García, J L
- Sánchez-Tapia, E M
- Unamuno, P
- González-Sarmiento, R
Producer: 20120920
In:
The British journal of dermatology vol. 166
Availability: No items available.
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