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The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe.

• Authors : Bouwer ST; Coto E; Santos F

Subjects: Gitelman Syndrome/Gitelman Syndrome/Gitelman Syndrome/*genetics ; Receptors, Drug/Receptors, Drug/Receptors, Drug/*genetics ; Roma/Roma/Roma/*genetics

• Source: Kidney international [Kidney Int] 2007 Oct; Vol. 72 (7), pp. 898.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print)

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The 2023 ACR/EULAR Classification Criteria for Calcium Pyrophosphate Deposition Disease.

• Authors : Abhishek, Abhishek; Tedeschi, Sara K.; Pascart, Tristan

Subjects: RHEUMATOLOGY; DIFFERENTIAL diagnosis; CHONDROCALCINOSISEUROPE; UNITED States

• Source: Arthritis & Rheumatology; Oct2023, Vol. 75 Issue 10, p1703-1713, 11p

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Prevalence of URAT1 allelic variants in the Roma population.

• Authors : Stiburkova, Blanka; Gabrikova, Dana; Čepek, Pavel

Subjects: URIC acid; GENETIC mutation; ALLELESEUROPE

• Source: Nucleosides, Nucleotides & Nucleic Acids; 2016, Vol. 35 Issue 10-12, p529-535, 7p

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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

• Authors : Ashton EJ; North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.; Legrand A

Subjects: High-Throughput Nucleotide Sequencing* ; Mutation*; DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods

• Source: Kidney international [Kidney Int] 2018 Apr; Vol. 93 (4), pp. 961-967. Date of Electronic Publication: 2018 Feb 15.Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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POSTER SESSION 1 THURSDAY, 27th MAY 2010 11.30 a.m–03.00 p.m.

Subjects: CHILD health services; CONFERENCES & conventions; MATERNAL health servicesEUROPE

• Source: Journal of Maternal-Fetal & Neonatal Medicine; May2010 Supplement 1, Vol. 23, p97-602, 506p

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[The European Rare Kidney Disease Reference Network].

• Authors : Wlodkowski T; Zentrum für Kinder und Jugendmedizin, Sektion Pädiatrische Nephrologie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland. .; Haeberle S

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/therapy ; Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis ; Rare Diseases*/Rare Diseases*/Rare Diseases*/epidemiology

• Source: Innere Medizin (Heidelberg, Germany) [Inn Med (Heidelb)] 2024 Dec; Vol. 65 (12), pp. 1283-1292. Date of Electronic Publication: 2024 Nov 13.Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9918384885306676 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results.

• Authors : Bassanese, Giulia; Wlodkowski, Tanja; Servais, Aude

• Source: Orphanet Journal of Rare Diseases. June 2, 2021, Vol. 16 Issue 1.

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