|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional and molecular studies in primary carnitine deficiency.
|
28841266 |
2017 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation.
|
25665836 |
2015 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency.
|
25846890 |
2015 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.
|
23963628 |
2014 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.
|
27896095 |
2014 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.
|
23653224 |
2014 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in primary carnitine deficiency.
|
21922592 |
2012 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
|
20027113 |
2010 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
|
20074989 |
2010 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
|
20574985 |
2010 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expanded newborn screening identifies maternal primary carnitine deficiency.
|
17126586 |
2007 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
|
16931768 |
2006 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
|
15714519 |
2005 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
|
15617188 |
2004 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotype and genotype variation in primary carnitine deficiency.
|
11715001 |
2002 |
|
Renal carnitine transport defect
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
|
12210323 |
2002 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
|
11058897 |
2000 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
|
10679939 |
2000 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency.
|
10612840 |
2000 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.
|
10425211 |
1999 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
|
10480371 |
1999 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
|
10559218 |
1999 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
|
10072434 |
1999 |
|
Renal carnitine transport defect
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
|
10545605 |
1999 |