Orphanet J Rare Dis Volume 4; 2009

Other Issues: previous | next | latest | archive

Volume 4; 2009

Case Report

Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report

Edson Marchiori, José Luiz N Ferreira, Carolina N Bittencourt, César A de Araújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos, and Alberto D Vianna

Orphanet J Rare Dis. 2009; 4: 8. Published online 2009 March 5. doi: 10.1186/1750-1172-4-8.

PMCID: PMC2660293

| Abstract | Full Text | PDF–285K |

Research

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, and Agnès Bloch-Zupan

Orphanet J Rare Dis. 2009; 4: 6. Published online 2009 February 21. doi: 10.1186/1750-1172-4-6.

PMCID: PMC2654544

| Abstract | Full Text | PDF–1.0M |

Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency

Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria, and Onofrio Resta

Orphanet J Rare Dis. 2009; 4: 10. Published online 2009 March 10. doi: 10.1186/1750-1172-4-10.

PMCID: PMC2660903

| Abstract | Full Text | PDF–226K |

Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report

Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil, and Maurizio Luisetti

Orphanet J Rare Dis. 2009; 4: 12. Published online 2009 April 15. doi: 10.1186/1750-1172-4-12.

PMCID: PMC2672056

| Abstract | Full Text | PDF–261K |

Reviews

Progressive familial intrahepatic cholestasis

Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, and Emmanuel Jacquemin

Orphanet J Rare Dis. 2009; 4: 1. Published online 2009 January 8. doi: 10.1186/1750-1172-4-1.

PMCID: PMC2647530

| Abstract | Full Text | PDF–765K |

Tetralogy of Fallot

Frederique Bailliard and Robert H Anderson

Orphanet J Rare Dis. 2009; 4: 2. Published online 2009 January 13. doi: 10.1186/1750-1172-4-2.

PMCID: PMC2651859

| Abstract | Full Text | PDF–956K |

Amyotrophic lateral sclerosis

Lokesh C Wijesekera and P Nigel Leigh

Orphanet J Rare Dis. 2009; 4: 3. Published online 2009 February 3. doi: 10.1186/1750-1172-4-3.

PMCID: PMC2656493

| Abstract | Full Text | PDF–2.1M |

Distal Xq duplication and functional Xq disomy

Damien Sanlaville, Caroline Schluth-Bolard, and Catherine Turleau

Orphanet J Rare Dis. 2009; 4: 4. Published online 2009 February 20. doi: 10.1186/1750-1172-4-4.

PMCID: PMC2649904

Osteopetrosis

Zornitza Stark and Ravi Savarirayan

Orphanet J Rare Dis. 2009; 4: 5. Published online 2009 February 20. doi: 10.1186/1750-1172-4-5.

PMCID: PMC2654865

| Abstract | Full Text | PDF–724K |

Jacobsen syndrome

Teresa Mattina, Concetta Simona Perrotta, and Paul Grossfeld

Orphanet J Rare Dis. 2009; 4: 9. Published online 2009 March 7. doi: 10.1186/1750-1172-4-9.

PMCID: PMC2670819

| Abstract | Full Text | PDF–729K |

Sheldon-Hall syndrome

Reha M Toydemir and Michael J Bamshad

Orphanet J Rare Dis. 2009; 4: 11. Published online 2009 March 23. doi: 10.1186/1750-1172-4-11.

PMCID: PMC2663550

| Abstract | Full Text | PDF–458K |

Other Issues: previous | next | latest | archive

		Other Issues: previous \| next \| latest \| archive Volume 4; 2009 Case Report Pulmonary hemorrhage syndrome associated with dengue fever, High-resolution computed tomography findings: a case report Edson Marchiori, José Luiz N Ferreira, Carolina N Bittencourt, César A de Araújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos, and Alberto D Vianna Orphanet J Rare Dis. 2009; 4: 8. Published online 2009 March 5. doi: 10.1186/1750-1172-4-8. PMCID: PMC2660293 \| Abstract \| Full Text \| PDF–285K \| Research Orodental phenotype and genotype findings in all subtypes of hypophosphatasia Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, and Agnès Bloch-Zupan Orphanet J Rare Dis. 2009; 4: 6. Published online 2009 February 21. doi: 10.1186/1750-1172-4-6. PMCID: PMC2654544 \| Abstract \| Full Text \| PDF–1.0M \| Early treatment with noninvasive positive pressure ventilation prolongs survival in Amyotrophic Lateral Sclerosis patients with nocturnal respiratory insufficiency Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria, and Onofrio Resta Orphanet J Rare Dis. 2009; 4: 10. Published online 2009 March 10. doi: 10.1186/1750-1172-4-10. PMCID: PMC2660903 \| Abstract \| Full Text \| PDF–226K \| Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil, and Maurizio Luisetti Orphanet J Rare Dis. 2009; 4: 12. Published online 2009 April 15. doi: 10.1186/1750-1172-4-12. PMCID: PMC2672056 \| Abstract \| Full Text \| PDF–261K \| Reviews Progressive familial intrahepatic cholestasis Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, and Emmanuel Jacquemin Orphanet J Rare Dis. 2009; 4: 1. Published online 2009 January 8. doi: 10.1186/1750-1172-4-1. PMCID: PMC2647530 \| Abstract \| Full Text \| PDF–765K \| Tetralogy of Fallot Frederique Bailliard and Robert H Anderson Orphanet J Rare Dis. 2009; 4: 2. Published online 2009 January 13. doi: 10.1186/1750-1172-4-2. PMCID: PMC2651859 \| Abstract \| Full Text \| PDF–956K \| Amyotrophic lateral sclerosis Lokesh C Wijesekera and P Nigel Leigh Orphanet J Rare Dis. 2009; 4: 3. Published online 2009 February 3. doi: 10.1186/1750-1172-4-3. PMCID: PMC2656493 \| Abstract \| Full Text \| PDF–2.1M \| Distal Xq duplication and functional Xq disomy Damien Sanlaville, Caroline Schluth-Bolard, and Catherine Turleau Orphanet J Rare Dis. 2009; 4: 4. Published online 2009 February 20. doi: 10.1186/1750-1172-4-4. PMCID: PMC2649904 \| Abstract \| Full Text \| PDF–505K \| Supplementary Material \| Osteopetrosis Zornitza Stark and Ravi Savarirayan Orphanet J Rare Dis. 2009; 4: 5. Published online 2009 February 20. doi: 10.1186/1750-1172-4-5. PMCID: PMC2654865 \| Abstract \| Full Text \| PDF–724K \| Jacobsen syndrome Teresa Mattina, Concetta Simona Perrotta, and Paul Grossfeld Orphanet J Rare Dis. 2009; 4: 9. Published online 2009 March 7. doi: 10.1186/1750-1172-4-9. PMCID: PMC2670819 \| Abstract \| Full Text \| PDF–729K \| Sheldon-Hall syndrome Reha M Toydemir and Michael J Bamshad Orphanet J Rare Dis. 2009; 4: 11. Published online 2009 March 23. doi: 10.1186/1750-1172-4-11. PMCID: PMC2663550 \| Abstract \| Full Text \| PDF–458K \|
		Other Issues: previous \| next \| latest \| archive
		Articles from Orphanet Journal of Rare Diseases are provided here courtesy of BioMed Central Write to PMC \| PMC Home \| PubMed NCBI \| U.S. National Library of Medicine NIH \| Department of Health and Human Services Privacy Policy \| Disclaimer \| Freedom of Information Act