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(Neuro endocrinology letters[TA])
2,654 results
  • A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy. [Journal Article]
    Neuro Endocrinol Lett 2019; 40(1):36-40Ozdemir Kutbay N, Ozbek MN, … Demirbilek H
  • CONCLUSIONS: Two siblings with X-ALD due to presumably an identical, missense ABCD1 mutation and distinct clinical phenotype have confirmed the lack of phenotype-genotype correlation and proved the essential role of molecular genetics analysis in the early diagnosis. It is crucial to follow up for the development of cranial involvement and decide a bone marrow transplantation which is the only option that can prevent the progression of the disease, thus extend the lifespan.
  • Lithium intoxication in the pre-hospital care with stroke symptoms - Case report. [Journal Article]
    Neuro Endocrinol Lett 2019; 40(1):17-21Peran D, Pukovcova K, … Mamova A
  • Lithium is widely used in psychiatry to treat bipolar affective disorders since 1970 but little is known about the incidence, clinical course and associated factors of acute lithium intoxication. Moderate and severe cases of lithium intoxication are rare. This case reports a patient with acute lithium intoxication (serum level of 3.7 mmol/L) with neurological symptoms imitating stroke, which affe…
  • Angiotensinogen gene T174M polymorphism is related to Hashimoto's thyroiditis. [Journal Article]
    Neuro Endocrinol Lett 2019; 39(8):579-585Wojciechowska-Durczynska K, Pacholczyk M, … Lewinski A
  • CONCLUSIONS: Our study has examined for the first time the association of genes related to RAAS with autoimmune thyroid disease and results suggest that AGT TM genotype individuals might be at higher risk of HT. Although in the present study we have not found any association between increased activation of RAAS and the risk of HT, still this issue seems to be interesting and worthy further research, considering patients with thyroid cancers.
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