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Akademický článek

Urinary Acidification Does Not Explain the Absence of Nephrocalcinosis in a Mouse Model of Familial Hypomagnesaemia with Hypercalciuria and Nephrocalcinosis (FHHNC).

Autor: Al-Shebel, Amr¹ (AUTHOR) amr.al-shebel@charite.de, Michel, Geert² (AUTHOR) geert.michel@charite.de, Breiderhoff, Tilman¹ (AUTHOR) dominik.mueller@charite.de, Müller, Dominik¹ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Feb2024, Vol. 25 Issue 3, p1779. 10p.

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Akademický článek

Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods

Autor: M. Vall-Palomar, J. Arévalo, G. Ariceta, A. Meseguer

Publikováno v: Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-9 (2018)

Abstract Background Molecular and cellular pathophysiological events occurring in the majority of rare kidney diseases remain to be elucidated. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive dis

Externí odkaz: https://doaj.org/article/668d1a1cc97c4496b9c28b4980fd17a5

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Akademický článek

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC): A Cross-sectional Study from Malaysia.

Autor: Bee Shuang Lee, Suet Li Yap, Jia Ni Lee

Publikováno v: Asian Journal of Pediatric Nephrology; Jan-Jun2024, Vol. 7 Issue 1, p3-6, 4p

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Akademický článek

Compounded Effervescent Magnesium for Familial Hypomagnesemia: A Case Report.

Autor: Bennati, Giada¹ (AUTHOR), Cirino, Mario¹ (AUTHOR) mario.cirino@burlo.trieste.it, Benericetti, Giulia¹ (AUTHOR), Maximova, Natalia² (AUTHOR), Zanier, Monica¹ (AUTHOR), Pigato, Federico¹ (AUTHOR), Parzianello, Anna³ (AUTHOR), Maestro, Alessandra¹ (AUTHOR), Barbi, Egidio^4,5 (AUTHOR), Zanon, Davide¹ (AUTHOR)

Publikováno v: Pharmaceuticals (14248247). Jun2023, Vol. 16 Issue 6, p785. 9p.

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Akademický článek

Bilateral slipped capital femoral epiphysis in a male adolescent with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), chronic renal failure, and severe hyperparathyroidism.

Autor: Sikora, Przemysław¹ sikoraprzem@hotmail.com, Zajączkowska, Małgorzata¹, Raganowicz, Tomasz², Borzęcka, Halina¹, Gregosiewicz, Andrzej², Konrad, Martin³

Publikováno v: European Journal of Pediatrics. Nov2013, Vol. 172 Issue 11, p1551-1555. 5p.

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Akademický článek

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC.

Autor: Tajima, Toshihiro¹, Nakae, Jun², Fujieda, Kenji² ken-fuji@asahikawa-med.ac.jp

Publikováno v: Pediatric Nephrology. Dec2003, Vol. 18 Issue 12, p1280-1282. 3p.

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Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene.

Autor: Wolf, Matthias F., Dötsch, Jörg, Konrad, Martin, Böswald, Michael, Rascher, Wolfgang

Publikováno v: Pediatric Nephrology. Aug2002, Vol. 17 Issue 8, p602. 7p.

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Akademický článek

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): Report of three cases with a novel mutation in CLDN19 gene

Autor: Amar Al-Shibli, Martin Konrad, Waleed Altay, Omar Al Masri, Lihad Al-Gazali, Ibrahim Al Attrach

Publikováno v: Saudi Journal of Kidney Diseases and Transplantation, Vol 24, Iss 2, Pp 338-344 (2013)

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19. Affected individuals usually develop

Externí odkaz: https://doaj.org/article/cd21bb92f8954875baaad98d42cd9faf

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Establishment of urinary exosome-like vesicles isolation protocol for FHHNC patients and evaluation of different exosomal RNA extraction methods

Autor: J. Arévalo, G. Ariceta, Anna Meseguer, M. Vall-Palomar

Publikováno v: Journal of Translational Medicine
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-9 (2018)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Background Molecular and cellular pathophysiological events occurring in the majority of rare kidney diseases remain to be elucidated. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70a99700bcfd6b0de21dc2083a80c7c2
https://pubmed.ncbi.nlm.nih.gov/30305086

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