Research & Literature

Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6.

Astor MC, Løvås K, Wolff AS, et al.

Endocrine connections 2015; (4(4)):215-22 doi:10.1530/EC-15-0066.

Hypocalcemia and hyperkalemia during magnesium infusion therapy in a pre-eclamptic patient.

Hudali T, Takkar C

Clinical case reports 2015; (3(10)):827-31 doi:10.1002/ccr3.356.

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report.

Altıncık A, Schlingmann KP, Tosun MS

Journal of clinical research in pediatric endocrinology 2016; (8(1)):101-4 doi:10.4274/jcrpe.2254.

Suppression of Parathyroid Hormone in a Patient with Severe Magnesium Depletion.

Mutnuri S, Fernandez I, Kochar T

Case reports in nephrology 2016; (2016()):2608538 doi:10.1155/2016/2608538.

Familial hypomagnesaemia with secondary hypocalcaemia.

Patel S, Rayanagoudar G, Gelding S

BMJ case reports 2016; (2016()).

Diagnostic strategy for inherited hypomagnesemia.

Horinouchi T, Nozu K, Kamiyoshi N, et al.

Clinical and experimental nephrology 2017; (21(6)):1003-1010 doi:10.1007/s10157-017-1396-7.

A Case of Renal Tubular Acidosis with Sjogren's Syndrome Showing Paradoxical Block of PTH Due to Severe Hypomagnesemia.

Kumar BV, Sivalingam M, Kumaran GS, Balakrishnan B

Indian journal of clinical biochemistry : IJCB 2017; (32(4)):496-499 doi:10.1007/s12291-016-0629-y.

An Advanced Formulation of a Magnesium Dietary Supplement Adapted for a Long-Term Use Supplementation Improves Magnesium Bioavailability: In Vitro and Clinical Comparative Studies.

Dualé C, Cardot JM, Joanny F, et al.

Biological trace element research 2018; (186(1)):1-8 doi:10.1007/s12011-018-1277-2.

Longitudinal Study of the Role of Epidermal Growth Factor on the Fractional Excretion of Magnesium in Children: Effect of Calcineurin Inhibitors.

Ledeganck KJ, Anné C, De Monie A, et al.

Nutrients 2018; (10(6)) doi:10.3390/nu10060677.

Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions.

Özlü SG, Kasapkara CS, Ceylaner S, et al.

Pediatric nephrology (Berlin, Germany) 2019; (34(10)):1727-1728 doi:10.1007/s00467-019-04231-9.

A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6.

Goda T, Komatsu H, Nozu K, Nakajima H

Human genome variation 2019; (6()):13 doi:10.1038/s41439-019-0043-0.

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Willows J, Al Badi M, Richardson C, et al.

F1000Research 2019; (8()):666 doi:10.12688/f1000research.19006.2.

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Yücel H, Genç Sel Ç, Kasapkara ÇS, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(1)):114-118 doi:10.4274/jcrpe.galenos.2020.2020.0004.

A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.

Lomelino-Pinheiro S, Margarida B, Lages AS

Endocrinology, diabetes & metabolism case reports 2020; (2020()).

Long-term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia

Bayramoğlu E, Keskin M, Aycan Z, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(3)):300-307 doi:10.4274/jcrpe.galenos.2021.2020.0192.

Hypermagnesemia in a 20-month-old healthy girl caused by the use of a laxative: a case report.

Araki K, Kawashima Y, Magota M, Shishida N

Journal of medical case reports 2021; (15(1)):129 doi:10.1186/s13256-021-02686-9.

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.

Papez J, Starha J, Slaba K, et al.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021; (165(4)):454-457 doi:10.5507/bp.2021.027.

A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemia.

Wang P, Qian Y, Gu C, et al.

Clinica chimica acta; international journal of clinical chemistry 2021; (523()):469-475 doi:10.1016/j.cca.2021.10.033.

Familial Hypomagnesemia With Secondary Hypocalcemia: A Case Report.

Gazzaz N, Alghamdi M

Cureus 2021; (13(11)):e19847 doi:10.7759/cureus.19847.

Postoperative respiratory depression caused by iatrogenic hypermagnesaemia.

Premkumar CR, Parthasarathy R, Kumar S, Vijaykumar S

Anaesthesia reports 2022; (10(1)):e12154 doi:10.1002/anr3.12154.

Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia.

Song J, Lei J, Zhang J, et al.

Frontiers in pediatrics 2022; (10()):834241 doi:10.3389/fped.2022.834241.

Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences.

Nevin SM, McLoone J, Wakefield CE, et al.

Journal of pediatric genetics 2022; (11(2)):117-125 doi:10.1055/s-0040-1721439.

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.

Han Y, Zhao Y, Wang H, Huo L

Frontiers in pediatrics 2022; (10()):912524 doi:10.3389/fped.2022.912524.

Familial hypomagnesemia with hypocalcemia: a rare cause of infantile seizures.

Srinivasan R, Ninama AC, Krishna S, Vasudevan A

CEN case reports 2023; (12(2)):139-145 doi:10.1007/s13730-022-00734-x.

Fibroblast growth factor 23 is independently associated with renal magnesium handling in patients with chronic kidney disease.

Grigore TV, Zuidscherwoude M, Witasp A, et al.

Frontiers in endocrinology 2022; (13()):1046392 doi:10.3389/fendo.2022.1046392.

Magnesium Homeostasis: Lessons from Human Genetics.

Morrison AR

Clinical journal of the American Society of Nephrology : CJASN 2023; (18(7)):969-978 doi:10.2215/CJN.0000000000000103.

Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.

Kamali F, Jamee M, Sayer JA, et al.

CEN case reports 2023; (12(4)):413-418 doi:10.1007/s13730-023-00785-8.

Hypomagnesemia with Secondary Hypocalcemia (HSH): a Case Report.

Zhao C, Lin Y, Jiang Z

Clinical laboratory 2023; (69(10)) doi:10.7754/Clin.Lab.2023.230505.

Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene.

Dokurel Çetin İ, Betül Gerik-Çelebi H, Demiral M, Çetin O

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(2)):184-188 doi:10.1515/jpem-2023-0378.

A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.

Uddin MS, Alradhi AY, Alqathani FMN, et al.

The American journal of case reports 2024; (25()):e942498 doi:10.12659/AJCR.942498.

Utility of fractional excretion of magnesium in diagnosing renal magnesium wasting in pediatric nephrology practice.

Awazu M, Matsumura K

Clinical biochemistry 2024; (131-132()):110807 doi:10.1016/j.clinbiochem.2024.110807.

The Effect of Omeprazole on Urinary Magnesium Excretion in Children with Peptic Diseases.

Famouri F, Tavahen N, Gholami H, et al.

Journal of research in pharmacy practice 2024; (13(2)):53-57 doi:10.4103/jrpp.jrpp_35_24.

How to Suspect and Approach Patients With Genetic Tubular Disease.

Karet Frankl FE

Seminars in nephrology 2025; (45(4)):151654 doi:10.1016/j.semnephrol.2025.151654.

Clinical Spectrum of Primary Hypomagnesemia with Secondary Hypocalcemia due to TRPM6 Mutation.

Aftab S, Anjum MN, Aslam N, et al.

Hormone research in paediatrics 2026; (99(7)):1045-1050 doi:10.1159/000547303.

Familial hypomagnesaemia with secondary hypocalcaemia: novel TRPM6 variant.

Alvelos R, Nico J, Machado M, Cordinhã C

BMJ case reports 2025; (18(11)) doi:10.1136/bcr-2025-269226.

[A case report of primary hypomagnesemia with secondary hypocalcemia caused by TRPM6 gene variants].

Zhou MY, Tang XJ, Lin SX, Chen CF

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2026; (28(1)):107-110 doi:10.7499/j.issn.1008-8830.2507066.

Renal magnesium wasting and functional hypoparathyroidism: a diagnostic and therapeutic challenge in hypocalcemia.

Schlegel A

Laboratory medicine 2026; (57(4)) doi:10.1093/labmed/lmag035.

Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review.

Yang M, Zheng Z, Shan X, Luo Y

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(9)):917-925 doi:10.1515/jpem-2026-0185.

Delayed recognition of hypomagnesemia causing refractory Hypocalcemia after Reoperative neck surgery in a resource-limited setting. a case report.

Flores CS, Vásquez SM, Pineda A, et al.

Oxford medical case reports 2026; (2026(7)):omag132 doi:10.1093/omcr/omag132.

Familial hypomagnesemia with secondary hypocalcemia: a novel TRPM6 mutation associated with treatment-resistant migraine in a North African family.

Paola PM, Gianni C, Emanuele M, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(10)).