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Ruiz‐Sala, Pedro
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1

Diagnosis of inborn errors of metabolism within the expande..:

Martín‐Rivada, Álvaro ; Palomino Pérez, Laura ; Ruiz‐Sala, Pedro...
JIMD Reports.  63 (2022)  2 - p. 146-161 , 2022
Link: https://doi.org/10.1002/..
 
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2

Long‐term follow‐up with filter paper samples in patients w..:

Stanescu, Sinziana ; Belanger‐Quintana, Amaya ; Fernández‐Felix, Borja Manuel...
JIMD Reports.  57 (2020)  1 - p. 44-51 , 2020
Link: https://doi.org/10.1002/..
 
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3

Clinical, biochemical, and molecular studies in pyridoxine‐..:

Pérez, Belén ; Gutiérrez‐Solana, Luis González ; Verdú, Alfonso...
Epilepsia.  54 (2013)  2 - p. 239-248 , 2013
Link: https://doi.org/10.1111/..
 
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4

A novel congenital disorder of glycosylation type without c..:

Pérez, Belén ; Medrano, Celia ; Ecay, Maria Jesus...
Journal of Inherited Metabolic Disease.  36 (2012)  3 - p. 535-542 , 2012
Link: https://doi.org/10.1007/..
 
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5

A new case of creatine transporter deficiency associated wi..:

Alcaide, Patricia ; Rodriguez‐Pombo, Pilar ; Ruiz‐Sala, Pedro...
Developmental Medicine & Child Neurology.  52 (2010)  2 - p. 215-217 , 2010
Link: https://doi.org/10.1111/..
 
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6

The Role of the Gut Microbiota in Sanfilippo Syndrome's Phy..:

Barbero-Herranz, Raquel ; Garriga-García, María ; Moreno-Blanco, Ana...
International Journal of Molecular Sciences.  25 (2024)  16 - p. 8856 , 2024
Link: https://doi.org/10.3390/..
 
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7

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Deri..:

Álvarez, Mar ; Ruiz-Sala, Pedro ; Pérez, Belén..
International Journal of Molecular Sciences.  24 (2023)  3 - p. 2182 , 2023
Link: https://doi.org/10.3390/..
 
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8

Novel variants in GALE cause syndromic macrothrombocytopeni..:

Marín-Quílez, Ana ; Di Buduo, Christian Andrea ; Díaz-Ajenjo, Lorena...
Blood.  141 (2023)  4 - p. 406-421 , 2023
Link: https://doi.org/10.1182/..
 
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9

Technical Aspects of Coenzyme Q10 Analysis: Validation of a..:

Paredes-Fuentes, Abraham J. ; Oliva, Clara ; Montero, Raquel...
Antioxidants.  11 (2022)  3 - p. 528 , 2022
Link: https://doi.org/10.3390/..
 
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10

Neuropathological Findings in Short-Chain enoyl-CoA Hydrata..:

Pena-Burgos, Eva Manuela ; Regojo, Rita María ; Sáenz de Pipaón, Miguel...
Pediatric and Developmental Pathology.  26 (2022)  2 - p. 138-143 , 2022
Link: https://doi.org/10.1177/..
 
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11

Interorgan amino acid interchange in propionic acidemia: th..:

Stanescu, Sinziana ; Belanger-Quintana, Amaya ; Fernandez-Felix, Borja Manuel...
Amino Acids.  54 (2022)  5 - p. 777-786 , 2022
Link: https://doi.org/10.1007/..
 
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12

Mitochondrial bioenergetic is impaired in Monocarboxylate t..:

Stanescu, Sinziana ; Bravo-Alonso, Irene ; Belanger-Quintana, Amaya...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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13

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and..:

Alcaide, Patricia ; Ferrer-López, Isaac ; Gutierrez, Leticia...
Journal of Clinical Medicine.  11 (2022)  10 - p. 2933 , 2022
Link: https://doi.org/10.3390/..
 
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14

Plasma CoQ10 Status in Patients with Propionic Acidaemia an..:

Stanescu, Sinziana ; Belanger-Quintana, Amaya ; Fernández-Felix, Borja Manuel...
Antioxidants.  11 (2022)  8 - p. 1588 , 2022
Link: https://doi.org/10.3390/..
 
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15

Biochemical Markers for the Diagnosis of Mitochondrial Fatt..:

Ruiz-Sala, Pedro ; Peña-Quintana, Luis
Journal of Clinical Medicine.  10 (2021)  21 - p. 4855 , 2021
Link: https://doi.org/10.3390/..
 
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