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A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.

Case reports in endocrinology

Carlsson ER, Toft Nielsen MB, Høgh AM, Veggerby Grønlund R, Fenger M, Ambye L.
PMID: 30895164
Case Rep Endocrinol. 2019 Feb 13;2019:9468252. doi: 10.1155/2019/9468252. eCollection 2019.

Heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene are known to cause familial hypocalciuric hypercalcemia (FHH), usually a benign form of hypercalcemia without symptoms of a disrupted calcium homeostasis. FHH can be mistaken for the more common primary...

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Carlsson ER, Toft Nielsen MB, Høgh AM, et al. A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. Case Rep Endocrinol. 2019;2019:9468252doi: 10.1155/2019/9468252.
Carlsson, E. R., Toft Nielsen, M. B., Høgh, A. M., Veggerby Grønlund, R., Fenger, M., & Ambye, L. (2019). A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. Case reports in endocrinology, 20199468252. https://doi.org/10.1155/2019/9468252
Carlsson, Elin Rebecka, et al. "A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory." Case reports in endocrinology vol. 2019 (2019): 9468252. doi: https://doi.org/10.1155/2019/9468252
Carlsson ER, Toft Nielsen MB, Høgh AM, Veggerby Grønlund R, Fenger M, Ambye L. A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. Case Rep Endocrinol. 2019 Feb 13;2019:9468252. doi: 10.1155/2019/9468252. eCollection 2019. PMID: 30895164; PMCID: PMC6393866.
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Next Generation PERG Method: Expanding the Response Dynamic Range and Capturing Response Adaptation.

Translational vision science & technology

Monsalve P, Triolo G, Toft-Nielsen J, Bohorquez J, Henderson AD, Delgado R, Miskiel E, Ozdamar O, Feuer WJ, Porciatti V.
PMID: 28553559
Transl Vis Sci Technol. 2017 May 22;6(3):5. doi: 10.1167/tvst.6.3.5. eCollection 2017 May.

PURPOSE: To compare a new method for steady-state pattern electroretinogram (PERGx) with a validated method (PERGLA) in normal controls and in patients with optic neuropathy.METHODS: PERGx and PERGLA were recorded in a mixed population (RESULTS: PERGLA and PERGx amplitudes...

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Monsalve P, Triolo G, Toft-Nielsen J, et al. Next Generation PERG Method: Expanding the Response Dynamic Range and Capturing Response Adaptation. Transl Vis Sci Technol. 2017;6(3):5doi: 10.1167/tvst.6.3.5.
Monsalve, P., Triolo, G., Toft-Nielsen, J., Bohorquez, J., Henderson, A. D., Delgado, R., Miskiel, E., Ozdamar, O., Feuer, W. J., & Porciatti, V. (2017). Next Generation PERG Method: Expanding the Response Dynamic Range and Capturing Response Adaptation. Translational vision science & technology, 6(3), 5. https://doi.org/10.1167/tvst.6.3.5
Monsalve, Pedro, et al. "Next Generation PERG Method: Expanding the Response Dynamic Range and Capturing Response Adaptation." Translational vision science & technology vol. 6,3 (2017): 5. doi: https://doi.org/10.1167/tvst.6.3.5
Monsalve P, Triolo G, Toft-Nielsen J, Bohorquez J, Henderson AD, Delgado R, Miskiel E, Ozdamar O, Feuer WJ, Porciatti V. Next Generation PERG Method: Expanding the Response Dynamic Range and Capturing Response Adaptation. Transl Vis Sci Technol. 2017 May 22;6(3):5. doi: 10.1167/tvst.6.3.5. eCollection 2017 May. PMID: 28553559; PMCID: PMC5444497.
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