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1دورية أكاديميةLysosomal cystine accumulation activates mTOR signaling in cystinosis: are mTOR inhibitors the cure?
المؤلفون: Christer S; Nephrogenetics Unit, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Simons M; Nephrogenetics Unit, Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: matias.simons@med.uni-heidelberg.de.
المصدر: Kidney international [Kidney Int] 2024 Apr; Vol. 105 (4), pp. 656-658.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Cystinosis*/drug therapy , Amino Acid Transport Systems, Neutral*, Humans ; Cystine/metabolism ; MTOR Inhibitors ; Lysosomes/metabolism ; TOR Serine-Threonine Kinases
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2دورية أكاديمية
المؤلفون: Emma F; Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy. Electronic address: francesco.emma@opbg.net., Hoff WV; Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Hohenfellner K; Department of Pediatric Nephrology, Children's Hospital RoMed Clinics Rosenheim, Rosenheim, Germany., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Ankara, Turkey., Greco M; Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy., Ariceta G; Division of Pediatric Nephrology, Hospital Universitari Vall d' Hebron, Barcelona, Spain., Bettini C; Department of Pediatric Subspecialties, Division of Nephrology, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy., Bockenhauer D; Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK; Department of Renal Medicine, University College London, London, UK., Veys K; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, Leuven, Belgium., Pape L; Department of Pediatrics II, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Hulton S; Department of Paediatric Nephrology, Birmingham Women's and Children's Hospital NHS Trust, Birmingham, UK., Collin S; Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Ozaltin F; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Ankara, Turkey; Nephrogenetic Laboratory, Hacettepe University School of Medicine, Ankara, Turkey., Servais A; Paris Descartes University, Imagine Institute, Inserm U1163, Paris, France; Adult Nephrology and Transplantation, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, Paris, France., Deschênes G; Department of Pediatric Nephrology, Robert Debré Hospital, University of Paris, Paris, France., Novo R; Department of Paediatric Nephrology, University Hospital of Lille, Lille, France., Bertholet-Thomas A; Hospices Civils de Lyon, Centre de Référence Maladies Rénales Rares, Lyon, France., Oh J; Department of Pediatric Nephrology, Pediatric Hepatology and Pediatric Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Cornelissen E; Department of Pediatric Nephrology, Radboud University Medical Center, Amalia Children's Hospital, Nijmegen, the Netherlands., Janssen M; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Ravà L; Clinical Pathways and Epidemiology Unit, Medical Direction, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy., Antignac C; Paris Descartes University, Imagine Institute, Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Paris, France; Department of Genetics, AP-HP, Hôpital Necker-Enfants Malades, Paris, France., Devuyst O; Division of Nephrology, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland., Niaudet P; Pediatric Nephrology, Hôpital Necker-Enfants Malades, Paris University, Paris, France., Levtchenko E; Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, Leuven, Belgium.
المصدر: Kidney international [Kidney Int] 2021 Nov; Vol. 100 (5), pp. 1112-1123. Date of Electronic Publication: 2021 Jul 06.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Cystinosis*/genetics , Fanconi Syndrome*, Adult ; Child, Preschool ; Cohort Studies ; Cysteamine/therapeutic use ; Cystine ; Cystine Depleting Agents ; Humans
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3دورية أكاديمية
المؤلفون: Langman CB; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Division of Kidney Diseases, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. Electronic address: c-langman@northwestern.edu., Barshop BA; Department of Pediatrics, University of California, San Diego, La Jolla, California, USA., Deschênes G; Department of Pediatrics, Division of Pediatric Nephrology, Robert Debré University Hospital, Paris, France., Emma F; Department of Nephrology and Urology, Istituto di Ricovero e Cura a Carattere Scientifico Bambino Gesù Children's Hospital, Rome, Italy., Goodyer P; Department of Pediatrics, McGill University, Montreal Children's Hospital, Montreal, Québec, Canada., Lipkin G; Department of Nephrology, Queen Elizabeth Hospital, Birmingham, UK., Midgley JP; Department of Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada., Ottolenghi C; University Paris Descartes, Paris, France; Department of Biochemistry B, Necker-Enfants Malades Hospital, Paris, France., Servais A; Department of Nephrology-Transplantation, Necker Hospital, Assistance Publique Hôpitaux de Paris, Paris Descartes University, Paris, France., Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Cairo University, Cairo, Egypt., Thoene JG; Department of Pediatric Genetics, University of Michigan, Ann Arbor, Michigan, USA., Levtchenko EN; Department of Pediatric Nephrology, University Hospitals Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, Belgium. Electronic address: elena.levtchenko@uzleuven.be.
مؤلفون مشاركون: Conference Participants
المصدر: Kidney international [Kidney Int] 2016 Jun; Vol. 89 (6), pp. 1192-203.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Transport Systems, Neutral/*genetics , Cysteamine/*therapeutic use , Cystine/*metabolism , Cystine Depleting Agents/*therapeutic use , Cystinosis/*etiology , Rare Diseases/*etiology, Adolescent ; Adult ; Age Factors ; Child ; Congresses as Topic ; Cysteamine/adverse effects ; Cystine Depleting Agents/adverse effects ; Cystinosis/complications ; Cystinosis/diagnosis ; Cystinosis/therapy ; Fanconi Syndrome/complications ; Fanconi Syndrome/drug therapy ; Genetic Testing ; Genetic Therapy ; Graft vs Host Disease/prevention & control ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunosuppression Therapy/adverse effects ; Infant ; Kidney Failure, Chronic/etiology ; Kidney Transplantation/adverse effects ; Lysosomes/metabolism ; Mutation ; Rare Diseases/complications ; Rare Diseases/diagnosis ; Rare Diseases/therapy ; Renal Dialysis
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4دورية أكاديمية
المؤلفون: Servais A; Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, APHP, Université de Paris, Paris, France. Electronic address: aude.servais@aphp.fr., Thomas K; Stone Unit, Guy's and St Thomas' NHS Foundation Trust, London, UK., Dello Strologo L; Renal Transplant Clinic, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, UK; The Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK., Bekri S; Department of Metabolic Biochemistry, Rouen University Hospital, Rouen, France., Bertholet-Thomas A; Centre de Référence des Maladies Rénales Rares, Filière ORKID, Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude-Bernard Lyon 1, Lyon, France., Bultitude M; Stone Unit, Guy's and St Thomas' NHS Foundation Trust, London, UK., Capolongo G; Unit of Nephrology, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Cerkauskiene R; Vilnius University Faculty of Medicine, Children's Clinic, Vilnius, Lithuania., Daudon M; UMR S 1155 and Physiology Unit, AP-HP, Hôpital Tenon, Sorbonne Université and INSERM, Paris, France., Doizi S; Sorbonne Université, GRC n°20, Groupe de Recherche Clinique sur la Lithiase Urinaire, Service d'Urologie, Hôpital Tenon, AP-HP, Paris, France., Gillion V; Département de Néphrologie adulte, Cliniques universitaires Saint Luc, Bruxelles, Belgium., Gràcia-Garcia S; Laboratory of Renal Lithiasis, Clinical Laboratories, Fundació Puigvert, Barcelona, Spain., Halbritter J; Division of Nephrology, Department of Endocrinology, Nephrology, and Rheumatology, University of Leipzig Medical Center, Leipzig, Germany., Heidet L; Néphrologie Pédiatrique, Centre de Référence MARHEA, Hôpital universitaire Necker-Enfants Malades, Paris, France., van den Heijkant M; Pediatric Renal Center, University Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Lemoine S; Nephrology and Renal Function Unit, Edouard Herriot Hospital, Hospices Civils de Lyon, Lyon, France; University of Lyon, Lyon, France., Knebelmann B; Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, APHP, Université de Paris, Paris, France., Emma F; Division of Nephrology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Levtchenko E; Division of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.
مؤلفون مشاركون: Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN
المصدر: Kidney international [Kidney Int] 2021 Jan; Vol. 99 (1), pp. 48-58. Date of Electronic Publication: 2020 Sep 09.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Systematic Review
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Cystinuria*/diagnosis , Cystinuria*/epidemiology , Cystinuria*/genetics, Adult ; Child ; Consensus ; Cystine ; Humans ; Kidney ; Quality of Life
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5دورية أكاديمية
المؤلفون: Langman CB; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; The Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA. Electronic address: c-langman@northwestern.edu.
المصدر: Kidney international [Kidney Int] 2019 Aug; Vol. 96 (2), pp. 275-277.
نوع المنشور: Journal Article; Comment
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Transport Systems, Neutral* , Cystinosis*, Cystine ; Galectin 3 ; Humans ; Inflammation ; Kidney
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6دورية أكاديمية
المؤلفون: Lobry T; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA; INSERM, U1078, Équipe 'Transfert de gènes et thérapie génique', Faculté de Médecine, Brest, France, and CHRU de Brest, Service de Génétique Moléculaire et d'histocompatibilité, Brest, France., Miller R; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA., Nevo N; INSERM, U1163, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Paris, France., Rocca CJ; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA., Zhang J; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, USA., Catz SD; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, USA., Moore F; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA., Thomas L; INSERM, U1163, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Paris, France., Pouly D; INSERM, U1163, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Paris, France., Bailleux A; INSERM, U1163, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Paris, France., Guerrera IC; Proteomics Platform 3P5-Necker, Université Paris Descartes-Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Paris, France., Gubler MC; INSERM, U1163, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Paris, France., Cheung WW; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA., Mak RH; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA., Montier T; INSERM, U1078, Équipe 'Transfert de gènes et thérapie génique', Faculté de Médecine, Brest, France, and CHRU de Brest, Service de Génétique Moléculaire et d'histocompatibilité, Brest, France., Antignac C; INSERM, U1163, Imagine Institute, Laboratory of Hereditary Kidney Diseases, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Paris, France; Department of Genetics, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Cherqui S; Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, USA. Electronic address: scherqui@ucsd.edu.
المصدر: Kidney international [Kidney Int] 2019 Aug; Vol. 96 (2), pp. 350-362. Date of Electronic Publication: 2019 Mar 06.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Transport Systems, Neutral/*metabolism , Cystinosis/*complications , Fanconi Syndrome/*immunology , Galectin 3/*metabolism , Inflammation/*immunology, Amino Acid Transport Systems, Neutral/genetics ; Animals ; Chemokine CCL2/immunology ; Chemokine CCL2/metabolism ; Cystine/metabolism ; Cystinosis/immunology ; Cystinosis/metabolism ; Cystinosis/pathology ; Disease Models, Animal ; Disease Progression ; Fanconi Syndrome/metabolism ; Fanconi Syndrome/pathology ; Female ; Galectin 3/genetics ; Humans ; Inflammation/metabolism ; Inflammation/pathology ; Kidney Tubules, Proximal/immunology ; Kidney Tubules, Proximal/pathology ; Lysosomes/metabolism ; Macrophages/immunology ; Male ; Mice ; Mice, Knockout ; Monocytes/immunology ; Proteolysis
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7دورية أكاديمية
المؤلفون: Goldfarb DS; Nephrology Section, New York Harbor VAMC, St Vincents Hospital, New York, New York 10010, USA. david.goldfarb@med.va.gov, Coe FL, Asplin JR
المصدر: Kidney international [Kidney Int] 2006 Mar; Vol. 69 (6), pp. 1041-7.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Print ISSN: 0085-2538 (Print) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Biological Assay/*methods , Cystine/*analysis , Cystinuria/*urine, Chemical Precipitation ; Creatinine/urine ; Cystine/chemistry ; Female ; Humans ; Hydrogen-Ion Concentration ; Male ; Phase Transition ; Sodium/urine ; Solubility ; Sulfhydryl Compounds/urine
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8دورية أكاديمية
المؤلفون: Rega LR; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy. Electronic address: laurarita.rega@opbg.net., Polishchuk E; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Montefusco S; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Napolitano G; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Tozzi G; Unit for Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Zhang J; Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA., Bellomo F; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Taranta A; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Pastore A; Laboratory of Proteomics and Metabolomics, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Polishchuk R; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Piemonte F; Unit for Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy., Medina DL; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Catz SD; Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, USA., Ballabio A; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy., Emma F; Division of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
المصدر: Kidney international [Kidney Int] 2016 Apr; Vol. 89 (4), pp. 862-73.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Amino Acid Transport Systems, Neutral/*metabolism , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*metabolism , Cystinosis/*metabolism , Lysosomes/*metabolism, Amino Acid Transport Systems, Neutral/genetics ; Cell Line ; Cell Nucleus/metabolism ; Cystine/metabolism ; Cystinosis/genetics ; Humans
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9دورية أكاديمية
المؤلفون: Wolf MT; Department of Pediatric Nephrology of the University Children's Hospital, University of Cologne, Cologne, Germany., Beck BB, Zaucke F, Kunze A, Misselwitz J, Ruley J, Ronda T, Fischer A, Eifinger F, Licht C, Otto E, Hoppe B, Hildebrandt F
المصدر: Kidney international [Kidney Int] 2007 Mar; Vol. 71 (6), pp. 574-81. Date of Electronic Publication: 2007 Jan 24.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0085-2538 (Print) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Hyperuricemia/*genetics , Kidney Diseases/*genetics , Mucoproteins/*genetics , Point Mutation/*genetics , Polycystic Kidney, Autosomal Dominant/*genetics, Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Cystine ; DNA Mutational Analysis ; Europe ; Exons/genetics ; Female ; Glycine ; Haplotypes/genetics ; Humans ; Hyperuricemia/urine ; Kidney Diseases/urine ; Male ; Middle Aged ; Mucoproteins/urine ; Pedigree ; Phenotype ; Polycystic Kidney, Autosomal Dominant/urine ; Turkey ; Uromodulin
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10دورية أكاديمية
المؤلفون: Evan AP; Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana 46220, USA. evan@anatomy.iupui.edu, Coe FL, Lingeman JE, Shao Y, Matlaga BR, Kim SC, Bledsoe SB, Sommer AJ, Grynpas M, Phillips CL, Worcester EM
المصدر: Kidney international [Kidney Int] 2006 Jun; Vol. 69 (12), pp. 2227-35. Date of Electronic Publication: 2006 May 17.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0085-2538 (Print) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE
مواضيع طبية MeSH: Cystine/*analysis , Kidney Calculi/*chemistry , Kidney Calculi/*pathology , Kidney Tubules, Collecting/*pathology , Loop of Henle/*pathology, Adolescent ; Adult ; Apatites/analysis ; Biopsy ; Crystallization ; Cystinuria/pathology ; Female ; Humans ; Kidney Tubules, Collecting/chemistry ; Loop of Henle/chemistry ; Male ; Microscopy, Electron ; Microscopy, Electron, Transmission ; Middle Aged ; Nephrostomy, Percutaneous ; Spectroscopy, Near-Infrared