Atypical presentation of familial hypocalciuric hypercalcaemia (FHH1)-would you recognise it?

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منابع مشابه

Familial hypocalciuric hypercalcemia: an atypical presentation.

9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...

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Familial hypocalciuric hypercalcemia: An atypical presentation

9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...

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Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia.

A boy is described who presented aged 7 weeks with severe biochemical and radiological neonatal hyperparathyroidism that had completely resolved by the age of 6 months. His mother had a normal serum calcium concentration but his father, paternal aunt, and paternal cousin all had a raised serum calcium due to familial hypocalciuric hypercalcaemia.

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[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation].

OBJECTIVES Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances...

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Misleading P-Value:Do You Recognise It?

We read the paper by Huak 1 with great interest. The author is to be congratulated for his view regarding the biostatistics. Although his paper is interesting, some considerations should be addressed. Huak 1 suggested that when statistical significance was reached, the manuscript stood a better chance of getting published (scenario 1 and 3 in Table 3). In contrast, a study with negative (statis...

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ژورنال

عنوان ژورنال: Endocrine Abstracts

سال: 2018

ISSN: 1479-6848

DOI: 10.1530/endoabs.59.ep30