搜索页_Nyhan+syndrome

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在“SpringerLink电子期刊”中，命中：31条，耗时：0.0200197 秒

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1. Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen

作者：Marco Pozzi (1)
Luigi Piccinini (1)
Maurizio Gallo (2)
Francesco Motta (3)
Sonia Radice (4)
Emilio Clementi (1) (5)

1. Scientific Institute IRCCS Eugenio Medea ; 23842 Bosisio Parini ; Lecco ; Italy
2. Scuola di Specializzazione in Medicina Fisica e Riabilitativa ; Universit脿 di Milano ; 20122 ; Milan ; Italy
3. Paediatric Orthopedics and Traumatology ; Children鈥檚 Hospital V. Buzzi ; 20126 ; Milan ; Italy
4. Unit of Clinical Pharmacology ; Department of Biomedical and Clinical Sciences L. Sacco ; 鈥淟uigi Sacco鈥?University Hospital ; Universit脿 di Milano ; 20157 ; Milan ; Italy
5. Unit of Clinical Pharmacology ; CNR Institute of Neuroscience ; Department of Biomedical and Clinical Sciences L. Sacco ; 鈥淟uigi Sacco鈥?University Hospital ; Universit脿 di Milano ; Via GB Grassi 74 ; 20157 ; Milan ; Italy

关键词：Lesch ; Nyhan syndrome ; Baclofen ; Dystonia ; Self ; injurious behaviour

刊名：Orphanet Journal of Rare Diseases

出版年：2014

2.Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome

作者：Krisztián Kállay (1) kallay@ossejt.org
Zoltán Liptai (1)
Gábor Benyó (1)
Csaba Kassa (1)
Veronika Goda (1)
János Sinkó (1)
ágnes Tóth (1)
Gergely Kriván (1)

关键词：Lesch ; Nyhan syndrome – Transplantation – HSCT – UCB – Cord blood – Unrelated

刊名：Metabolic Brain Disease

出版年：2012

3. Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene

作者：Suvasini Sharma (1)
Rosa Torres Jiménez (2)
Satinder Aneja (1)
Marta G. Garcia (2)
Gulshan R. Sethi (3)

关键词：Self ; mutilation ; Hyperuricemia ; Purine metabolism

刊名：The Indian Journal of Pediatrics

出版年：2012

4.Impairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch–Nyhan disease: BODIPY–forskolin as pharmacological tool

作者：Liz Kinast (1)
Juliane von der Ohe (1)
Heike Burhenne (1)
Roland Seifert (1) seifert.roland@mh-hannover.de

关键词：Adenylyl cyclase – BODIPY ; forskolin – B103 rat neuroblastoma cells – Hypoxanthine phosphoribosyltransferase – Lesch ; Nyhan syndrome

刊名：Naunyn-Schmiedeberg's Archives of Pharmacology

出版年：2012

5. A modified TALEN-based system for robust generation of knock-out human pluripotent stem cell lines and disease models

作者：Stefan Frank (1) (2)
Boris V Skryabin (3) (4)
Boris Greber (1) (2)

关键词：Human pluripotent stem cells ; Targeted gene disruption ; TALE nucleases ; Disease modeling

刊名：BMC Genomics

出版年：2013

6.Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome

作者： Przemys?aw Sikora ; Monika Pijanowska ; Marek Majewski ; Beata Bienia? ; Halina Borz?cka and Ma?gorzata Zajczkowska

关键词：Lesch ; Nyhan syndrome ; Xanthine urolithiasis ; Allopurinol ; Acute renal failure

刊名：Pediatric Nephrology

出版年：2006

7.Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome

作者：Przemys?aw Sikora ; Monika Pijanowska ; Marek Majewski ; Beata Bienia? ; Halina Borz?cka and Ma?gorzata Zajczkowska

关键词：Lesch ; Nyhan syndrome ; Xanthine urolithiasis ; Allopurinol ; Acute renal failure

刊名：Pediatric Nephrology

出版年：2006

8.Rare variant of Lesch¨CNyhan syndrome without self-mutilation or nephrolithiasis

作者：Tanja Kersnik Levart

关键词：Lesch– ; Nyhan syndrome ; Hypoxanthine ; guanine ; phosphoribosyl transferase (HPRT) deficiency ; Dystonia ; No self ; mutilation ; Hyperechoic renal medullary pyramids

刊名：Pediatric Nephrology

出版年：2007

9.Nephrolithiasis related to inborn metabolic diseases

作者：Pierre Cochat ; Val¨¦rie Pichault ; Justine Bacchetta ; Laurence Dubourg ; Jean-Fran?ois Sabot ; Christine Saban ; Michel Daudon and Aur¨¦lia Liutkus

关键词：Nephrolithiasis ; Nephrocalcinosis ; Primary hyperoxaluria ; Fanconi syndrome ; Cystinuria ; Purine metabolism ; Pyrimidine metabolism ; Uric acid ; Xanthine ; Glycogen storage disease type 1

刊名：Pediatric Nephrology

出版年：2010

10. Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn

作者： Ivana Pela ; Maria Alice Donati ; Elena Procopio and Patrizio Fiorini

关键词：HPRT deficiency ; Uric acid nephropathy ; Kidney failure ; Newborn

刊名：Pediatric Nephrology

出版年：2008

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