Search the collection

1,052 results for Miscellaneous+hereditary+metabolic+disorders

Sort by:

Sort by

Limit results to:

20 per page

1,052 results for Miscellaneous+hereditary+metabolic+disorders

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
Author / Creator:Emond, Mary J ; Louie, Tin ; Emerson, Julia ; Zhao, Wei ; Mathias, Rasika A ; Knowles, Michael R ; Wright, Fred A ; Rieder, Mark J ; Tabor, Holly K ; Nickerson, Deborah A ; Barnes, Kathleen C ; Gibson, Ronald L ; Bamshad, Michael J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-08, Vol.44 (8), p.886-889
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
Author / Creator:Taulan, Magali ; Guittard, Caroline ; Theze, Corinne ; Claustres, Mireille ; Georges, Marie des
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2009-05, Vol.17 (12), p.1683-1687
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Author / Creator:Ramsey, Bonnie W ; Davies, Jane ; McElvaney, N. Gerard ; Tullis, Elizabeth ; Bell, Scott C ; Dřevínek, Pavel ; Griese, Matthias ; McKone, Edward F ; Wainwright, Claire E ; Konstan, Michael W ; Moss, Richard ; Ratjen, Felix ; Sermet-Gaudelus, Isabelle ; Rowe, Steven M ; Dong, Qunming ; Rodriguez, Sally ; Yen, Karl ; Ordoñez, Claudia ; Elborn, J. Stuart
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2011-11, Vol.365 (18), p.1663-1672
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Cystic Fibrosis Pulmonary Guidelines: Chronic Medications for Maintenance of Lung Health
Author / Creator:Mogayzel, Peter J. ; Naureckas, Edward T. ; Robinson, Karen A. ; Mueller, Gary ; Hadjiliadis, Denis ; Hoag, Jeffrey B. ; Lubsch, Lisa ; Hazle, Leslie ; Sabadosa, Kathy ; Marshall, Bruce
Publisher:New York, NY: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2013-04, Vol.187 (7), p.680-689
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Primary Hyperoxaluria
Author / Creator:Cochat, Pierre ; Rumsby, Gill
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2013-08, Vol.369 (7), p.649-658
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Monogenic Mitochondrial Disorders
Author / Creator:Koopman, Werner J.H ; Willems, Peter H.G.M ; Smeitink, Jan A.M
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2012-03, Vol.366 (12), p.1132-1141
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Mitochondrial diseases
Author / Creator:Schapira, Anthony HV, Prof
Publisher:Kidlington: Elsevier
Journal title:The Lancet (British edition), 2012-05, Vol.379 (9828), p.1825-1834
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study
Author / Creator:Bryant, Josephine M, BSc ; Grogono, Dorothy M, MRCP ; Greaves, Daniel, MRCP ; Foweraker, Juliet, FRCPath ; Roddick, Iain, BSc ; Inns, Thomas, MSc ; Reacher, Mark, FFPH ; Haworth, Charles S, FRCP ; Curran, Martin D, PhD ; Harris, Simon R, PhD ; Peacock, Sharon J, Prof ; Parkhill, Julian, Prof ; Floto, R Andres, Dr
Publisher:Kidlington: Elsevier Ltd
Journal title:The Lancet (British edition), 2013-05, Vol.381 (9877), p.1551-1560
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung
Author / Creator:Pezzulo, Alejandro A. ; Tang, Xiao Xiao ; Hoegger, Mark J. ; Abou Alaiwa, Mahmoud H. ; Ramachandran, Shyam ; Moninger, Thomas O. ; Karp, Phillip H. ; Wohlford-Lenane, Christine L. ; Haagsman, Henk P. ; van Eijk, Martin ; Bánfi, Botond ; Horswill, Alexander R. ; Stoltz, David A. ; McCray, Paul B. ; Welsh, Michael J. ; Zabner, Joseph
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2012-07, Vol.487 (7405), p.109-113
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation
Author / Creator:Davies, Jane C. ; Wainwright, Claire E. ; Canny, Gerard J. ; Chilvers, Mark A. ; Howenstine, Michelle S. ; Munck, Anne ; Mainz, Jochen G. ; Rodriguez, Sally ; Li, Haihong ; Yen, Karl ; Ordoñez, Claudia L. ; Ahrens, Richard
Publisher:New York, NY: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2013-06, Vol.187 (11), p.1219-1225
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
Author / Creator:Accurso, Frank J ; Rowe, Steven M ; Clancy, J.P ; Boyle, Michael P ; Dunitz, Jordan M ; Durie, Peter R ; Sagel, Scott D ; Hornick, Douglas B ; Konstan, Michael W ; Donaldson, Scott H ; Moss, Richard B ; Pilewski, Joseph M ; Rubenstein, Ronald C ; Uluer, Ahmet Z ; Aitken, Moira L ; Freedman, Steven D ; Rose, Lynn M ; Mayer-Hamblett, Nicole ; Dong, Qunming ; Zha, Jiuhong ; Stone, Anne J ; Olson, Eric R ; Ordoñez, Claudia L ; Campbell, Preston W ; Ashlock, Melissa A ; Ramsey, Bonnie W
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2010-11, Vol.363 (21), p.1991-2003
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial
Author / Creator:Wong, Conroy, Dr ; Jayaram, Lata, FRACP ; Karalus, Noel, FRACP ; Eaton, Tam, FRACP ; Tong, Cecilia, RN ; Hockey, Hans, MSc ; Milne, David, FRANZCR ; Fergusson, Wendy, BHSc ; Tuffery, Christine, BN ; Sexton, Paul, FRACP ; Storey, Louanne, BSc ; Ashton, Toni, Prof
Publisher:Kidlington: Elsevier Ltd
Journal title:The Lancet (British edition), 2012-08, Vol.380 (9842), p.660-667
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
Author / Creator:Whyte, Michael P ; Greenberg, Cheryl R ; Salman, Nada J ; Bober, Michael B ; McAlister, William H ; Wenkert, Deborah ; Van Sickle, Bradley J ; Simmons, Jill H ; Edgar, Terence S ; Bauer, Martin L ; Hamdan, Mohamed A ; Bishop, Nick ; Lutz, Richard E ; McGinn, Mairead ; Craig, Stanley ; Moore, Jean N ; Taylor, John W ; Cleveland, Robert H ; Cranley, William R ; Lim, Ruth ; Thacher, Tom D ; Mayhew, Jill E ; Downs, Matthew ; Millán, José Luis ; Skrinar, Alison M ; Crine, Philippe ; Landy, Hal
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2012-03, Vol.366 (10), p.904-913
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Non–Cystic Fibrosis Bronchiectasis
Author / Creator:McShane, Pamela J. ; Naureckas, Edward T. ; Tino, Gregory ; Strek, Mary E.
Publisher:New York, NY: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2013-09, Vol.188 (6), p.647-656
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Magnetic Resonance Imaging Detects Changes in Structure and Perfusion, and Response to Therapy in Early Cystic Fibrosis Lung Disease
Author / Creator:Wielpütz, Mark O. ; Puderbach, Michael ; Kopp-Schneider, Annette ; Stahl, Mirjam ; Fritzsching, Eva ; Sommerburg, Olaf ; Ley, Sebastian ; Sumkauskaite, Migle ; Biederer, Jürgen ; Kauczor, Hans-Ulrich ; Eichinger, Monika ; Mall, Marcus A.
Publisher:New York, NY: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2014-04, Vol.189 (8), p.956-965
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Clinical Care Guidelines for Cystic Fibrosis-Related Diabetes: A position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed b...
Author / Creator:MORAN, Antoinette ; BRUNZELL, Carol ; COHEN, Richard C ; KATZ, Marcia ; MARSHALL, Bruce C ; ONADY, Gary ; ROBINSON, Karen A ; SABADOSA, Kathryn A ; STECENKO, Arlene ; SLOVIS, Bonnie
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes care, 2010-12, Vol.33 (12), p.2697-2708
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Cystic fibrosis
Author / Creator:O'Sullivan, Brian P, Prof ; Freedman, Steven D, MD
Publisher:Kidlington: Elsevier Ltd
Journal title:The Lancet (British edition), 2009-05, Vol.373 (9678), p.1891-1904
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Progression of early structural lung disease in young children with cystic fibrosis assessed using CT
Author / Creator:Mott, Lauren S ; Park, Judy ; Murray, Conor P ; Gangell, Catherine L ; de Klerk, Nicholas H ; Robinson, Philip J ; Robertson, Colin F ; Ranganathan, Sarath C ; Sly, Peter D ; Stick, Stephen M
Publisher:London: BMJ Publishing Group
Journal title:Thorax, 2012-06, Vol.67 (6), p.509-516
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Cystic Fibrosis-Related Diabetes: Current Trends in Prevalence, Incidence, and Mortality
Author / Creator:Moran, Antoinette ; Dunitz, Jordan ; Nathan, Brandon ; Saeed, Asad ; Holme, Bonnie ; Thomas, William
Publisher:Alexandria, VA: American Diabetes Association
Journal title:Diabetes care, 2009-09, Vol.32 (9), p.1626-1631
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Disruption of the CFTR Gene Produces a Model of Cystic Fibrosis in Newborn Pigs
Author / Creator:Rogers, Christopher S ; Stoltz, David A ; Meyerholz, David K ; Ostedgaard, Lynda S ; Rokhlina, Tatiana ; Taft, Peter J ; Rogan, Mark P ; Pezzulo, Alejandro A ; Karp, Philip H ; Itani, Omar A ; Kabel, Amanda C ; Wohlford-Lenane, Christine L ; Davis, Greg J ; Hanfland, Robert A ; Smith, Tony L ; Samuel, Melissa ; Wax, David ; Murphy, Clifton N ; Rieke, August ; Whitworth, Kristin ; Uc, Aliye ; Starner, Timothy D ; Brogden, Kim A ; Shilyansky, Joel ; McCray, Paul B. Jr ; Zabner, Joseph ; Prather, Randall S ; Welsh, Michael J
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2008-09, Vol.321 (5897), p.1837-1841
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 1,052 results

Export record to excel

Export this record

Export record to excel

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

Export this record

Export record to excel

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

Export this record

Export record to excel

A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation

Export this record

Export record to excel

Cystic Fibrosis Pulmonary Guidelines: Chronic Medications for Maintenance of Lung Health

Export this record

Export record to excel

Primary Hyperoxaluria

Export this record

Export record to excel

Monogenic Mitochondrial Disorders

Export this record

Export record to excel

Mitochondrial diseases

Export this record

Export record to excel

Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study

Export this record

Export record to excel

Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung

Export this record

Export record to excel

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation

Export this record

Export record to excel

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation

Export this record

Export record to excel

Azithromycin for prevention of exacerbations in non-cystic fibrosis bronchiectasis (EMBRACE): a randomised, double-blind, placebo-controlled trial

Export this record

Export record to excel

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Export this record

Export record to excel

Non–Cystic Fibrosis Bronchiectasis

Export this record

Export record to excel

Magnetic Resonance Imaging Detects Changes in Structure and Perfusion, and Response to Therapy in Early Cystic Fibrosis Lung Disease

Export this record

Export record to excel

Clinical Care Guidelines for Cystic Fibrosis-Related Diabetes: A position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed b...

Export this record

Export record to excel

Cystic fibrosis

Export this record

Export record to excel

Progression of early structural lung disease in young children with cystic fibrosis assessed using CT

Export this record

Export record to excel

Cystic Fibrosis-Related Diabetes: Current Trends in Prevalence, Incidence, and Mortality

Export this record

Export record to excel

Disruption of the CFTR Gene Produces a Model of Cystic Fibrosis in Newborn Pigs

Refine your search