|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Carnitine transport and fatty acid oxidation.
|
26828774 |
2016 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation.
|
25665836 |
2015 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
|
25846890 |
2015 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
|
23653224 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.
|
23963628 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
|
23653224 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
|
23379544 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.
|
27896095 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency.
|
25132046 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
|
23379544 |
2014 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
|
23520115 |
2013 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
|
23430798 |
2013 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.
|
23430798 |
2013 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
|
23520115 |
2013 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.
|
23430858 |
2012 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
|
21126579 |
2011 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.
|
21126579 |
2011 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
GeneticVariation |
CLINVAR |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
|
20074989 |
2010 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
MIR3936HG
|
Renal carnitine transport defect
|
0.100 |
CausalMutation |
CLINVAR |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |