Luis Aldámiz‐Echevarría - Publications, H-index & Citations

Luis Aldámiz‐Echevarría

CIBERER

31H指数

129论文数

2.5K被引数

收录论文 45

发表时间

Reversible deficiencies of arylsulfatase B and alpha-galactosidase in Duchenne muscular dystrophy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-02-01

PREAI

Leguina, Domingo Gonzalez-Lamuno; Andrade, Fernando; Aldamiz-Echevarria, Luis

Editorial: Nutritional management of patients with inborn errors of metabolism 社论: 先天性代谢错误患者的营养管理

FRONTIERS IN NUTRITION

IF5.1

2024-11-28

OAAI

Pedron-Giner, Consuelo; Aldamiz-Echevarria, Luis; Couce, Maria L.

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence

NUTRIENTS

IF5

2024-02-25

OAAI

Gonzalez-Lamuno, Domingo; Morencos, Carmenmelina; Arrieta, Francisco J.; Venegas, Eva; Vicente-Rodriguez, German; Casajus, Jose Antonio; Couce, Maria Luz; Aldamiz-Echevarria, Luis

Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-02-01

OAAI

Gonzalez-Lamuno, Domingo; Aldamiz-Echevarria, Luis; Pintos-Morell, Guillem

Treatment adherence in tyrosinemia type 1 patients

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-06-03

OAAI

Gonzalez-Lamuno, Domingo; Sanchez-Pintos, Paula; Andrade, Fernando; Couce, Maria L.; Aldamiz-Echevarria, Luis

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia

Mitochondrion

IF4.5

2020-11-01

PREAI

Ugarteburu, Olatz; Teresa Garcia-Silva, Maria; Aldamiz-Echevarria, Luis; Gort, Laura; Garcia-Villoria, Judit; Tort, Frederic; Ribes, Antonia

Non-alcoholic fatty liver in hereditary fructose intolerance

CLINICAL NUTRITION

IF7.4

2020-02-01

OAAI

Aldamiz-Echevarria, Luis; de las Lieras, Javier; Couce, Maria Luz; Alcalde, Carlos; Vitoria, Isidro; Bueno, Maria; Blasco-Alonso, Javier; Garcia, Maria Concepcion; Ruiz, Monica; Suarez, Rafael; Andrade, Fernando; Villate, Olatz

Vacuolated lymphocytes of blood smears in the diagnoses of lysosomal disorders

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-01

PREAI

Gonzalez-Lamuno, Domingo; Irastorza, Inaki; Andrade, Fernando; Aldamiz-Echevarria, Luis

Expression levels of the mono carboxylate transporter MCT1 in erythrocytes from patients with Fabry disease and predominant hypertrophic myocardiopathy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-02-01

PREAI

Gonzalez-Lamuno, Domingo; Irastorza, Inaki; Andrade, Fernando; Gutierrez-Larranaga, Maria; San Segundo, David; Aldamiz-Echevarria, Luis

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

IF3.1

2019-11-01

PREAI

Andrade, Fernando; Vitoria, Isidro; Martin Hernandez, Elena; Pintos-Morell, Guillem; Correcher, Patricia; Puig-Pina, Rocio; Quijada-Fraile, Pilar; Pena-Quintana, Luis; Ma Marquez, Ana; Villate, Olatz; Garcia Silva, Ma Teresa; de las Heras, Javier; Ceberio, Leticia; Rodrigues, Esmeralda; Almeida Campos, Teresa; Yahyaoui, Raquel; Blasco, Javier; Vives-Pinera, Inmaculada; Gil, David; del Toro, Mireia; Ruiz-Pons, Monica; Canedo, Elvira; Barba Romero, Miguel Angel; Concepcion Garcia-Jimenez, Ma; Aldamiz-Echevarria, Luis

Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?

CLINICAL NUTRITION

IF7.4

2019-08-01

PREAI

Aldamiz-Echevarria, Luis; Villate, Olatz

Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2019-04-02

PREAI

Andrade, Fernando; Villate, Olatz; Couce, Maria L.; Bueno, Maria A.; Alcalde, Carlos; de las Heras, Javier; Ceberio, Leticia; Nunez-Marcos, Sergio; Suarez Nambo, Pablo; Aldamiz-Echevarria, Luis

Betaine anhydrous in homocystinuria: results from the RoCH registry

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-03-14

OAAI

Valayannopoulos, Vassili; Schiff, Manuel; Guffon, Nathalie; Nadjar, Yann; Garcia-Cazorla, Angels; Martinez-Pardo Casanova, Mercedes; Cano, Aline; Couce, Maria L.; Dalmau, Jaime; Pena-Quintana, Luis; Rigalleau, Vincent; Touati, Guy; Aldamiz-Echevarria, Luis; Cathebras, Pascal; Eyer, Didier; Brunet, Dominique; Damaj, Lena; Dobbelaere, Dries; Gay, Claire; Hieronimus, Sylvie; Levrat, Virginie; Maillot, Francois

Assessment of plasma 7-ketocholesterol concentration, chitotriosidase activity and CCL18/PARC concentration in Spanish patients treated with human recombinant lisosomal add lipase

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-02-01

PREAI

Cebolla, J. J.; Irun, P.; Lahoz, C.; Garcia-Jimenez, I.; Gil Ortega, D.; Quintero Bernabeu, J.; Aldamiz-Echevarria, L.; de Las Heras, J.; Brea-Hernando, A.; Plana, N.; Ibarretxe, D.; Balmaseda-Serrano, E.; Giraldo, P.

Carbohydrate status in patients with phenylketonuria

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-06-27

OAAI

Couce, Maria L.; Sanchez-Pintos, Paula; Vitoria, Isidro; De Castro, Maria-Jose; Aldamiz-Echevarria, Luis; Correcher, Patricia; Fernandez-Marmiesse, Ana; Roca, Iris; Hermida, Alvaro; Martinez-Olmos, Miguel; Leis, Rosaura

Fabry disease in the Spanish population: observational study with detection of 77 patients

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-04-10

OAAI

Vieitez, Irene; Souto-Rodriguez, Olga; Fernandez-Mosquera, Lorena; San Millan, Beatriz; Teijeira, Susana; Fernandez-Martin, Julian; Martinez-Sanchez, Felisa; Jose Aldamiz-Echevarria, Luis; Lopez-Rodriguez, Monica; Navarro, Carmen; Ortolano, Saida

Plasma biomarker discovery for early chronic kidney disease diagnosis based on chemometric approaches using LC-QTOF targeted metabolomics data

JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

IF3.1

2018-02-01

OAAI

Benito, S.; Sanchez-Ortega, A.; Unceta, N.; Jansen, J. J.; Postma, G.; Andrade, F.; Aldamiz-Echevarria, L.; Buydens, L. M. C.; Goicolea, M. A.; Barrio, R. J.

Untargeted metabolomics for plasma biomarker discovery for early chronic kidney disease diagnosis in pediatric patients using LC-QTOF-MS

ANALYST

IF3.3

2018-01-01

PREAI

Benito, S.; Sanchez-Ortega, A.; Unceta, N.; Andrade, F.; Aldamiz-Echevarria, L.; Goicolea, M. A.; Barrio, R. J.

Improvement of newborn screening using a fuzzy inference system

EXPERT SYSTEMS WITH APPLICATIONS

IF7.5

2017-07-01

PREAI

Segundo, Unai; Aldamiz-Echevarria, Luis; Lopez-Cuadrado, Javier; Buenestado, David; Andrade, Fernando; Perez, Tomas A.; Barrena, Raul; Perez-Yarza, Eduardo G.; Pikatza, Juan M.

An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease

EXPERT OPINION ON DRUG METABOLISM & TOXICOLOGY

IF3.4

2016-11-28

OAAI

De Las Heras, Javier; Aldamiz-Echevarria, Luis; Martinez-Chantar, Maria-Luz; Delgado, Teresa C.

研究方向