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Molecular Genetics and Metabolism Reports
|
November 30, 2016
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by <i>ALDH7A1</i> genetic defect
Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy, et al.
Clinical Chemistry
|
May 3, 2013
Marked biological variance in endocrine and biochemical markers in childhood: establishment of pediatric reference intervals using healthy community children from the CALIPER cohort
Dana Bailey, David Colantonio, Lianna Kyriakopoulou, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 16, 2014
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet
Saadet Mercimek-Mahmutoglu, Dawn Cordeiro, Vivian Cruz, et al.
Plos One
|
November 14, 2013
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism
Yuan Yan Sin, Laurel L Ballantyne, Kamalika Mukherjee, et al.
JIMD Reports
|
November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.
Clinical Chemistry
|
February 29, 2012
Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children
David A Colantonio, Lianna Kyriakopoulou, Man Khun Chan, et al.
Clinical Chemistry
|
May 3, 2013
Complex biological pattern of fertility hormones in children and adolescents: a study of healthy children from the CALIPER cohort and establishment of pediatric reference intervals
Danijela Konforte, Jennifer L Shea, Lianna Kyriakopoulou, et al.
Clinical Biochemistry
|
May 16, 2015
Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children
Tracy Teodoro-Morrison, Lianna Kyriakopoulou, Yunqi K Chen, et al.
Plos One
|
May 5, 2015
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice
Laurel L Ballantyne, Yuan Yan Sin, Tim St Amand, et al.
Plos One
|
September 15, 2023
Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations
Justin Cottrell, Peter Dixon, Xingshan Cao, et al.
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of 2
Search research articles
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Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by <i>ALDH7A1</i> genetic defect
Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy, et al.
Clinical Chemistry
|
May 3, 2013
Marked biological variance in endocrine and biochemical markers in childhood: establishment of pediatric reference intervals using healthy community children from the CALIPER cohort
Dana Bailey, David Colantonio, Lianna Kyriakopoulou, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 16, 2014
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet
Saadet Mercimek-Mahmutoglu, Dawn Cordeiro, Vivian Cruz, et al.
Plos One
|
November 14, 2013
Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism
Yuan Yan Sin, Laurel L Ballantyne, Kamalika Mukherjee, et al.
JIMD Reports
|
November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.
Clinical Chemistry
|
February 29, 2012
Closing the gaps in pediatric laboratory reference intervals: a CALIPER database of 40 biochemical markers in a healthy and multiethnic population of children
David A Colantonio, Lianna Kyriakopoulou, Man Khun Chan, et al.
Clinical Chemistry
|
May 3, 2013
Complex biological pattern of fertility hormones in children and adolescents: a study of healthy children from the CALIPER cohort and establishment of pediatric reference intervals
Danijela Konforte, Jennifer L Shea, Lianna Kyriakopoulou, et al.
Clinical Biochemistry
|
May 16, 2015
Dynamic biological changes in metabolic disease biomarkers in childhood and adolescence: A CALIPER study of healthy community children
Tracy Teodoro-Morrison, Lianna Kyriakopoulou, Yunqi K Chen, et al.
Plos One
|
May 5, 2015
Strategies to rescue the consequences of inducible arginase-1 deficiency in mice
Laurel L Ballantyne, Yuan Yan Sin, Tim St Amand, et al.
Plos One
|
September 15, 2023
Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations
Justin Cottrell, Peter Dixon, Xingshan Cao, et al.
Page
of 2