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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1952 1
1954 1
1955 1
1971 2
1972 1
1975 1
1976 3
1977 2
1980 6
1983 3
1984 2
1985 2
1986 3
1987 2
1990 2
1991 2
1992 2
1993 3
1994 4
1995 2
1996 4
1997 6
1998 6
1999 4
2000 4
2001 5
2002 5
2003 8
2004 2
2005 4
2006 5
2007 4
2008 5
2009 12
2010 5
2011 9
2012 13
2013 5
2014 10
2015 11
2016 10
2017 8
2018 11
2019 10
2020 9
2021 9
2022 9
2023 14
2024 5

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232 results

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Page 1
Megalin and cubilin in proximal tubule protein reabsorption: from experimental models to human disease.
Nielsen R, Christensen EI, Birn H. Nielsen R, et al. Kidney Int. 2016 Jan;89(1):58-67. doi: 10.1016/j.kint.2015.11.007. Kidney Int. 2016. PMID: 26759048 Free article. Review.
We will examine the limitations of the different models and compare the findings to phenotypic observations in inherited human disorders associated with receptor dysfunction. Furthermore, evidence from receptor knockout mouse models as well as human observations sug …
We will examine the limitations of the different models and compare the findings to phenotypic observations in inherited human disord …
Salt-Losing Tubulopathies in Children: What's New, What's Controversial?
Kleta R, Bockenhauer D. Kleta R, et al. J Am Soc Nephrol. 2018 Mar;29(3):727-739. doi: 10.1681/ASN.2017060600. Epub 2017 Dec 13. J Am Soc Nephrol. 2018. PMID: 29237739 Free PMC article. Review.
Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences. Salt-losing tubulopathies can affect all tubular segments, from the proxi …
Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, …
Secondary carnitine deficiency.
Duran M, Loof NE, Ketting D, Dorland L. Duran M, et al. J Clin Chem Clin Biochem. 1990 May;28(5):359-63. J Clin Chem Clin Biochem. 1990. PMID: 2199597 Review.
Patients on haemodialysis treatment will lose carnitine in the dialysis fluid, whereas excessive urinary losses of free and acetylated carnitine occur in the Fanconi syndrome. Secondary carnitine deficiency may be accompanied by a moderate degree of muscular dysfunc …
Patients on haemodialysis treatment will lose carnitine in the dialysis fluid, whereas excessive urinary losses of free and acetylated carni …
Fanconi syndrome induced by adefovir dipivoxil: a case report and clinical review.
Song K, Yan Q, Yang Y, Lv M, Chen Y, Dai Y, Zhang L, Huang Y, Zhang C, Gao H. Song K, et al. J Int Med Res. 2020 Oct;48(10):300060520954713. doi: 10.1177/0300060520954713. J Int Med Res. 2020. PMID: 33100076 Free PMC article. Review.
More than 150 cases of Fanconi syndrome (FS) or hypophosphatemia osteomalacia induced by low-dose adefovir dipivoxil (ADV) have been reported since 2002, when ADV was introduced for the long-term treatment of hepatitis B virus (HBV) infection. Because the life expec …
More than 150 cases of Fanconi syndrome (FS) or hypophosphatemia osteomalacia induced by low-dose adefovir dipivoxil (ADV) hav …
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities.
Kluck R, Müller S, Jagodzinski C, Hohenfellner K, Büscher A, Kemper MJ, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Kanzelmeyer N, Pavičić L, Haffner D, Zivicnjak M. Kluck R, et al. J Inherit Metab Dis. 2022 Mar;45(2):192-202. doi: 10.1002/jimd.12473. Epub 2022 Jan 14. J Inherit Metab Dis. 2022. PMID: 34989402

INC patients showed more impaired height than CKD controls (-1.8 vs -0.7 z-score; P < .001), despite adequate cysteamine therapy, treatment for Fanconi syndrome and more frequent use of growth hormone. ...Pediatric patients with infantile nephropathic cyst

…

INC patients showed more impaired height than CKD controls (-1.8 vs -0.7 z-score; P < .001), despite adequate cysteamine therapy,

…
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC article.
Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure.Methods We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney fai …
Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure.Methods We c …
Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants.
Müller S, Kluck R, Jagodzinski C, Brügelmann M, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Oh J, Billing H, Thumfart J, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Pavičić L, Haffner D, Zivicnjak M. Müller S, et al. Pediatr Nephrol. 2023 Dec;38(12):3989-3999. doi: 10.1007/s00467-023-06058-x. Epub 2023 Jul 7. Pediatr Nephrol. 2023. PMID: 37415042 Free PMC article.
BACKGROUND: Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy. ...RESULTS: Patients w …
BACKGROUND: Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resu …
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts.
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J. Haffner D, et al. Cells. 2022 Jan 5;11(1):170. doi: 10.3390/cells11010170. Cells. 2022. PMID: 35011732 Free PMC article. Review.
Its underlying pathophysiology is complex and multifactorial, associating complementary, albeit distinct entities, in addition to ordinary mineral and bone disorders observed in other types of chronic kidney disease. Amongst these long-term consequences are renal Fancon …
Its underlying pathophysiology is complex and multifactorial, associating complementary, albeit distinct entities, in addition to ordinary m …
Drug toxicity in the proximal tubule: new models, methods and mechanisms.
Hall AM, Trepiccione F, Unwin RJ. Hall AM, et al. Pediatr Nephrol. 2022 May;37(5):973-982. doi: 10.1007/s00467-021-05121-9. Epub 2021 May 28. Pediatr Nephrol. 2022. PMID: 34050397 Free PMC article. Review.
Clinically, PT dysfunction leads to urinary wasting of important solutes normally reabsorbed by this nephron segment, leading to systemic complications such as bone demineralization and a clinical scenario known as the renal Fanconi syndrome (RFS). While PT defects …
Clinically, PT dysfunction leads to urinary wasting of important solutes normally reabsorbed by this nephron segment, leading to systemic co …
Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction".
Ludwig M, Sethi SK. Ludwig M, et al. Int Urol Nephrol. 2011 Dec;43(4):1107-15. doi: 10.1007/s11255-011-9914-0. Epub 2011 Mar 1. Int Urol Nephrol. 2011. PMID: 21360162 Review.
The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. The renal Fanconi syndrome (FS) is a defect of proximal tubular function attributable to different rare inherited …
The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory …
232 results