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1 . Academic Journal
Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives
저자
by
Peña-Quintana L
;
Llarena M
;
Reyes-Suárez D
;
Aldámiz-Echevarria L
.
소스
Patient Preference and Adherence, Vol Volume 11, Pp 1489-1496 (2017)
Open Access (DOAJ)
Open Access (T&F)
Web of Science
Scopus
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6 . Academic Journal
Visual test for detection of pathological glycosaminoglycans excretion in mucopolysaccharidoses. A diagnostic tool in paediatric rheumatology
저자
by
Rua MJ
;
Rodriguez L
;
Andrade F
;
Prieto JA
;
Montejo M
, et al.
소스
Pediatric Rheumatology Online Journal, Vol 6, Iss Suppl 1, p P157 (2008)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence.
저자
by
González-Lamuño D
;
Morencos C
;
Arrieta FJ
;
Venegas E
;
Vicente-Rodríguez G
, et al.
소스
Publisher:
MDPI Publishing
Country of Publication:
Switzerland
NLM ID:
101521595
Publication Model:
Electronic
Cited Medium:
Internet
ISSN:
2072-6643 (Electronic)
Linking ISSN:
20726643
NLM ISO Abbreviation:
Nutrients
Subsets:
MEDLINE
Open Access (PubMed Central)
Web of Science
Scopus
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7 .
Post-authorization safety study of Betaine anhydrous
저자
by
Mütze U
;
Gleich F
;
Garbade SF
;
Plisson C
;
Aldámiz-Echevarría L
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Open Access (OpenAIRE)
Scopus
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7 .
Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene
저자
by
Marti-Sanchez L
;
Baide-Mairena H
;
Marcé-Grau A
;
Pons R
;
Skouma A
, et al.
소스
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
Postauthorization safety study of betaine anhydrous.
저자
by
Mütze U
;
Gleich F
;
Garbade SF
;
Plisson C
;
Aldámiz-Echevarría L
, et al.
소스
Publisher:
Wiley
Country of Publication:
United States
NLM ID:
7910918
Publication Model:
Print-Electronic
Cited Medium:
Internet
ISSN:
1573-2665 (Electronic)
Linking ISSN:
01418955
NLM ISO Abbreviation:
J Inherit Metab Dis
Subsets:
MEDLINE
Web of Science
Scopus
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7 . Academic Journal
Fatty acid composition of skeletal muscle and adipose tissue in Spanish infants and children.
저자
by
Sanjurjo P
;
Aldámiz-Echevarría L
;
Prado C
;
Azcona I
;
Elorz J
, et al.
소스
British Journal of Nutrition; Jan2006, Vol. 95 Issue 1, p168-173, 6p
Web of Science
Scopus
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7 .
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
저자
by
Couce ML
;
Sánchez-Pintos P
;
Aldámiz-Echevarría L
;
Vitoria I
;
Navas V
, et al.
소스
Medicine
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
Treatment adherence in tyrosinemia type 1 patients.
저자
by
González-Lamuño D
;
Sánchez-Pintos P
;
Andrade F
;
Couce ML
;
Aldámiz-Echevarría L
.
소스
Publisher:
BioMed Central
Country of Publication:
England
NLM ID:
101266602
Publication Model:
Electronic
Cited Medium:
Internet
ISSN:
1750-1172 (Electronic)
Linking ISSN:
17501172
NLM ISO Abbreviation:
Orphanet J Rare Dis
Subsets:
MEDLINE
Open Access (PubMed Central)
Open Access (BioMed Central)
Web of Science
Scopus
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7 .
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
저자
by
Couce ML
;
Aldamiz-Echevarría L
;
Bueno MA
;
Barros P
;
Belanger-Quintana A
, et al.
소스
JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Open Access (OpenAIRE)
Scopus
JCR 저널정보
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