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Elena Martín-Hernández
11660  Ergebnisse:
Personensuche X
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1

Transport®NPC: open phase 3 global trial of intravenous hyd..:

Hastings, Caroline A. ; Goker-Alpan, Ozlem ; Pena, Loren...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107875 , 2024
Link: https://doi.org/10.1016/..
 
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2

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia...
Journal of Clinical Medicine.  11 (2022)  17 - p. 5045 , 2022
Link: https://doi.org/10.3390/..
 
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3

Recommendations for the Diagnosis and Therapeutic Managemen..:

Bélanger-Quintana, Amaya ; Arrieta Blanco, Francisco ; Barrio-Carreras, Delia...
Nutrients.  14 (2022)  13 - p. 2755 , 2022
Link: https://doi.org/10.3390/..
 
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4

Identification of Clinical Variants beyond the Exome in Inb..:

Soriano-Sexto, Alejandro ; Gallego, Diana ; Leal, Fátima...
International Journal of Molecular Sciences.  23 (2022)  21 - p. 12850 , 2022
Link: https://doi.org/10.3390/..
 
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5

Effectiveness and safety of the treatment of lysosomal depo..:

Canales-Siguero, Dolores ; García-Muñoz, Carmen ; Quijada Fraile, Pilar...
Medicina Clínica (English Edition).  159 (2022)  8 - p. 380-384 , 2022
Link: https://doi.org/10.1016/..
 
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6

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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7

Recommendations for the Diagnosis and Therapeutic Managemen..:

Amaya Bélanger-Quintana ; Francisco Arrieta Blanco ; Delia Barrio-Carreras...
https://www.mdpi.com/2072-6643/14/13/2755.  , 2022
Link: https://doi.org/10.3390/..
 
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8

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Elena Martín-Hernández ; Pilar Quijada-Fraile ; Patricia Correcher...
https://www.mdpi.com/2077-0383/11/17/5045.  , 2022
Link: https://doi.org/10.3390/..
 
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9

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

Patricia Alcaide ; Isaac Ferrer-López ; Leticia Gutierrez...
https://www.mdpi.com/2077-0383/11/10/2933.  , 2022
Link: https://doi.org/10.3390/..
 
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10

Identification of Clinical Variants beyond the Exome in Inb..:

Alejandro Soriano-Sexto ; Diana Gallego ; Fátima Leal...
Molecular Pathology, Diagnostics, and Therapeutics.  , 2022
Link: https://doi.org/10.3390/..
 
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11

Identification of Clinical Variants beyond the Exome in Inb..:

Alejandro Soriano-Sexto ; Diana Gallego ; Fátima Leal...
https://www.mdpi.com/1422-0067/23/21/12850.  , 2022
Link: https://doi.org/10.3390/..
 
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12

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Elena Martín-Hernández ; Pilar Quijada-Fraile ; Patricia Correcher...
Endocrinology & Metabolism.  , 2022
Link: https://doi.org/10.3390/..
 
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13

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

Patricia Alcaide ; Isaac Ferrer-López ; Leticia Gutierrez...
Endocrinology & Metabolism.  , 2022
Link: https://doi.org/10.3390/..
 
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14

Recommendations for the Diagnosis and Therapeutic Managemen..:

Amaya Bélanger-Quintana ; Francisco Arrieta Blanco ; Delia Barrio-Carreras...
Nutrition and Metabolism.  , 2022
Link: https://doi.org/10.3390/..
 
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15

MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:

Lopes Abath Neto, Osorio ; Medne, Livija ; Donkervoort, Sandra...
Brain.  144 (2021)  9 - p. 2722-2731 , 2021
Link: https://doi.org/10.1093/..
 
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