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Human Mutation
|
April 27, 2004
Characterization of seven novel mutations in seven patients with GAMT deficiency
C B Item, S Mercimek-Mahmutoglu, R Battini, et al.
Clinical Genetics
|
December 17, 2009
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
E Quintana, L Gort, C Busquets, et al.
Clinical Biochemistry
|
April 19, 2011
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders
M Serrano, A Ormazábal, M A Vilaseca, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2010
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
Mireia Tondo, Nilo Lambruschini, Lilianne Gomez-Lopez, et al.
Prostate Cancer and Prostatic Diseases
|
December 14, 2016
Updated postoperative nomogram incorporating the number of positive lymph nodes to predict disease recurrence following radical prostatectomy
D P Nguyen, M Kent, A Vilaseca, et al.
Hormone Research
|
August 14, 1998
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome
R Artuch, C Pavía, A Playán, et al.
Journal of Inherited Metabolic Disease
|
October 18, 2008
Arginine supplementation in four patients with X-linked creatine transporter defect
C Fons, A Sempere, A Arias, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
P Briones, M A Vilaseca, E Schollen, et al.
Anales Espanoles De Pediatria
|
June 4, 2002
[Hyperhomocystinemia and 677C T methylenetetrahydrofolate reductase polymorphism as a cardiovascular risk factor in childhood]
C Mainou Cid, N García Giralt, M A Vilaseca Buscà, et al.
Journal of Inherited Metabolic Disease
|
January 6, 2010
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Angela Sempere, Angela Arias, Guillermo Farré, et al.
Page
of 14
Search research articles
Search
Showing results (101-110 of 133) with videos related to
Sort By:
Page
of 14
Human Mutation
|
April 27, 2004
Characterization of seven novel mutations in seven patients with GAMT deficiency
C B Item, S Mercimek-Mahmutoglu, R Battini, et al.
Clinical Genetics
|
December 17, 2009
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
E Quintana, L Gort, C Busquets, et al.
Clinical Biochemistry
|
April 19, 2011
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders
M Serrano, A Ormazábal, M A Vilaseca, et al.
Journal of Inherited Metabolic Disease
|
January 7, 2010
The monitoring of trace elements in blood samples from patients with inborn errors of metabolism
Mireia Tondo, Nilo Lambruschini, Lilianne Gomez-Lopez, et al.
Prostate Cancer and Prostatic Diseases
|
December 14, 2016
Updated postoperative nomogram incorporating the number of positive lymph nodes to predict disease recurrence following radical prostatectomy
D P Nguyen, M Kent, A Vilaseca, et al.
Hormone Research
|
August 14, 1998
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome
R Artuch, C Pavía, A Playán, et al.
Journal of Inherited Metabolic Disease
|
October 18, 2008
Arginine supplementation in four patients with X-linked creatine transporter defect
C Fons, A Sempere, A Arias, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
P Briones, M A Vilaseca, E Schollen, et al.
Anales Espanoles De Pediatria
|
June 4, 2002
[Hyperhomocystinemia and 677C T methylenetetrahydrofolate reductase polymorphism as a cardiovascular risk factor in childhood]
C Mainou Cid, N García Giralt, M A Vilaseca Buscà, et al.
Journal of Inherited Metabolic Disease
|
January 6, 2010
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Angela Sempere, Angela Arias, Guillermo Farré, et al.
Page
of 14