|
Congenital leptin deficiency
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Analysis of serum leptin levels and leptin gene mutations is a rapid and easy step toward the diagnosis of congenital leptin deficiency that is considered an important cause in early childhood obesity.
|
31483094 |
2020 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
While leptin replacement therapy fails to provide substantial benefit in common obesity, it is an effective treatment for congenital leptin deficiency and states of acquired leptin deficiency such as lipodystrophy.
|
30475221 |
2019 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Congenital Leptin Deficiency and Leptin Gene Missense Mutation Found in Two Colombian Sisters with Severe Obesity.
|
31067764 |
2019 |
|
Congenital leptin deficiency
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To test this assumption, we examined ambulatory blood pressure, resting heart rate, Schellong test results, cold pressor test results, heart rate variability, catecholamine metabolites, and aldosterone levels in 6 patients with congenital leptin deficiency before as well as 2-7 days and 7-14 months after the start of leptin substitution.
|
31357197 |
2019 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed.
|
29568105 |
2018 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Leptin therapy reverses morbid obesity related to congenital leptin deficiency and appears to possibly treat lipodystrophy, a finding which has led to the approval of leptin for the treatment of lipodystrophy in the USA and Japan.
|
26313897 |
2015 |
|
Congenital leptin deficiency
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In addition to congenital leptin deficiency, conditions that may be associated with decreased leptin levels include hypothalamic amenorrhea, anorexia nervosa, and congenital or acquired lipodystrophy syndromes.
|
22665330 |
2012 |
|
Congenital leptin deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied three adults with congenital leptin deficiency due to a mutation in the leptin gene.
|
21613360 |
2011 |
|
Congenital leptin deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified five Turkish patients (one male and two female adults; one boy and one girl) with congenital leptin deficiency due to a missense mutation in the leptin gene.
|
21410864 |
2011 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy.
|
21340154 |
2010 |
|
Congenital leptin deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
|
15472169 |
2004 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
I have shown that administration of recombinant human leptin results in the onset of puberty at an appropriate developmental age in human congenital leptin deficiency.
|
12087499 |
2002 |
|
Congenital leptin deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Treatment with recombinant human leptin (0.028 mg/kg) induced a progressive weight loss (without evidence of tachyphylaxis) in a morbidly obese patient with congenital leptin deficiency.
|
11469718 |
2001 |