Search research articles
Contact Us
Filters
Showing results (31-40 of 62) with videos related to
Page
of 7
Sort By:
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.
Biochimica Et Biophysica Acta
|
May 12, 2015
Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms
Magnus Hole, Jarl Underhaug, Hector Diez, et al.
Clinical Biochemistry
|
April 5, 2008
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
Raquel Montero, José Antonio Sánchez-Alcázar, Paz Briones, et al.
Plos One
|
July 30, 2013
Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, et al.
Journal of Alzheimer'S Disease : JAD
|
August 16, 2011
Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency
Carlos Ortez, Cristina Villar, Carmen Fons, et al.
Journal of Translational Medicine
|
October 26, 2023
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
Uliana Musokhranova, Cristina Grau, Cristina Vergara, 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.
Archives of Neurology
|
May 11, 2011
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
Belén Pérez-Dueñas, Aida Ormazábal, Claudio Toma, et al.
Medicina Clinica
|
July 15, 2011
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]
María Luz Couce, Celia Pérez-Cerdá, María Teresa García Silva, et al.
Mitochondrion
|
March 14, 2015
Mutation loads in different tissues from six pathogenic mtDNA point mutations
María M O'Callaghan, Sonia Emperador, Mercè Pineda, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 62) with videos related to
Sort By:
Page
of 7
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.
Biochimica Et Biophysica Acta
|
May 12, 2015
Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms
Magnus Hole, Jarl Underhaug, Hector Diez, et al.
Clinical Biochemistry
|
April 5, 2008
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
Raquel Montero, José Antonio Sánchez-Alcázar, Paz Briones, et al.
Plos One
|
July 30, 2013
Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, et al.
Journal of Alzheimer'S Disease : JAD
|
August 16, 2011
Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency
Carlos Ortez, Cristina Villar, Carmen Fons, et al.
Journal of Translational Medicine
|
October 26, 2023
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
Uliana Musokhranova, Cristina Grau, Cristina Vergara, 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.
Archives of Neurology
|
May 11, 2011
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
Belén Pérez-Dueñas, Aida Ormazábal, Claudio Toma, et al.
Medicina Clinica
|
July 15, 2011
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]
María Luz Couce, Celia Pérez-Cerdá, María Teresa García Silva, et al.
Mitochondrion
|
March 14, 2015
Mutation loads in different tissues from six pathogenic mtDNA point mutations
María M O'Callaghan, Sonia Emperador, Mercè Pineda, et al.
Page
of 7