与 «NEPHRONOPHTHISIS»相关的德语书籍
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Nephronophthisis的用法。与
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1
Nephrologie: Pathophysiologie - Klinik - Nierenersatzverfahren
Am J Kidney Dis 1998; 32(6): 976-983 107. Olbrich H, Fliegauf M, HoefeleJ et al.
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis,
tapetoretinal degeneration and hepatic fibrosis. Nat Genet 2003; 34(4): 455-459
108.
2
Handbook of Pediatric Autopsy Pathology
Familial Nephronophthisis-Medullary Cystic Disease Medullary cystic disease
and so-called juvenile nephronophthisis were first described separately. The
major pathologicchangesareofanessentiallynonspecifictubulointerstitial nephritis
with ...
Enid Gilbert-Barness, Diane E. Spicer, Thora S. Steffensen, 2013
(Nephronophthisis). Pathogenese. Genetisch heterogene, sehr seltene
Erkrankung mit übereinstimmenden morphologischen Nierenveränderungen.
Die rezessiv erbliche Variante führt vor dem 20. Lebensjahr zur
Niereninsuffizienz, die ...
4
Ultraschalldiagnostik in Pädiatrie und Kinderchirurgie: ...
10-jährige Patientin mit Nephronophthisis: treten Retinopathien, neurologische
Auffälligkeiten und Skelettanomalien (Zapfenepiphysen) hinzu. Patholo- gisch-
anatomisch findet sich das Bild einer tubuloin- terstitiellen Fibrose mit Atrophie
und ...
Volker Hofmann, Karl-Heinz Deeg, Peter Friedrich Hoyer, 2005
5
Pschyrembel klinisches Wörterbuch: Mit klinischen Syndromen ...
Mit klinischen Syndromen und Nomina Anatomica. Nephronophthisis, hereditäre
idiopathische den Tubuli (Harnkanälchen) zugeführt. Vgl. Glomerulusfiltrat. 2.
Tubuläre (Rück)resorp tion: im Tubulus u. im Sammelrohr Entziehung der
meisten ...
6
Zentralblatt fuer allgemeine Pathologie und pathologische ...
12. STEHLE, B. T., LIRENMANN, D. S., BEATTIE, C. W.: Nephronophthisis. Am. J.
Med. 1980; 68: 531 -538. 13. SWORN, M. J., EISINGER, A. J.: Medullary cystic
disease and juvenile nephronophthisis in separate members of the same family.
7
Frankfurter zeitschrift fuer pathologie
Anat. 41, «3 (1901). GrÜttner, R., u. W. Lenz: Zur Kenntnis und
Differentialdiagnose der familiären Nephronophthise im Kindesalter. Arch.
Kinderheilk. 155, 271 (1957). Hackzell, G.: A case of familial juvenile
nephronophthisis. Acta paediat.
Mschr Kinderheilk. (im Druck, 1972) 5. Gisehon, N., D. Heinegard, G. Holmbetg, L
Lindberg, E. Lindstedt, G. Lindstedt, B. Lind- stedt, B. Schersten: Renal medullary
cystic disease or familial juvenile nephronophthisis: A renal tubulär disease.
9
Acta Radiologica: Diagnosis
The resemblance between nephronophthisis and interstitial nephritis is
emphasized by chronic interstitial nephritis being considerably more common in
families with nephronophthisis than in the average population; interstitial
nephritis ...
10
Helvetica paediatrica acta: Supplement
29 Proesmans W.. van Damme B., Macken J.: Nephronophthisis and
tapetoretinal degeneration associated with lower fibrosis. Clin. Nephrol. 3. 160-
164 ( 1975). 30 Ross C F.. Crome L.. Mackenzie D. Y.: The Laurence-Moon-Biedl
syndrome.
Société suisse de pédiatrie, 1985
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Rakel ble reddet av mammas nyre
På Barneklinikken ved Haukeland universitetssykehus ble mistanken raskt bekreftet. Rakel hadde nephronophthisis, kronisk nyresvikt. – Det var ingen god ... «Seher, 十月 16»
Guardian's 'Stuff for Students' godsend to Charlottetown mother
Its nickname is “salt water'' but its scientific name is juvenile nephronophthisis. That means monthly trips to the IWK Hospital in Halifax for the single mom and ... «The Guardian Charlottetown, 八月 16»
(수상)충남대병원 이지원 교수, 대한신장학회 우수연구자상 수상
우수연구자상을 수상하게 된 논문은 'Atypical hemolytic uremic syndrome: Korean pediatric series (Pediatr Int. 2014 Dec 2)' 와 'Nephronophthisis 13: implications ... «의약뉴스, 七月 16»
SOFT syndrome caused by compound heterozygous mutations of ...
Unlike SOFT syndrome, cranioectodermal dysplasia frequently accompanies nephronophthisis, craniosynostosis and dental anomalies, and cartilage-hair ... «Nature.com, 一月 16»
Fundraiser aids Pel Bay girl's fight against rare kidney disease
A fundraiser event will be held on Sunday, November 8 to help support brave Juvenile Nephronophthisis survivor, Katrina Sonnick; her living donor father, ... «Bronx Times, 十一月 15»
Rakel fekk mamma si nyre
Berre nokre timar seinare var det klart at Rakel hadde «nephronophthisis», kronisk nyresvikt. – Det var ikkje ein god beskjed å få. Borna er det kjæraste vi har, ... «Nordhordland, 十月 15»
'It felt right to us...'
Deitrick, 30, Milton, who has a genetic disorder called nephronophthisis, a renal condition that attacks the kidneys, had been on a transplant waiting list for three ... «Sunbury Daily Item, 九月 15»
The C175R mutation alters nuclear localization and transcriptional ...
Nephronophthisis (NPH) is a rare autosomal ciliopathy, but the leading cause for hereditary end-stage renal disease in children. Most NPH family members form ... «Nature.com, 九月 15»
Replication stress-induced DNA damage in renal ciliopathies
The association of nephronophthisis and related ciliopathies with mutations in ciliary proteins has been thought to indicate a pathogenic role for cilia dysfunction ... «Nature.com, 九月 15»
Periksa Mimisan Malah Ketahuan Ada Gangguan Ginjal
Setelah menjalani serangkaian tes, Crystal diketahui mengalami juvenile nephronophthisis, yakni sebuah gangguan ginjal genetik yang bisa berakibat gagal ... «Health Liputan6.com, 七月 15»
