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Idiopathic chronic eosinophilic pneumonia.

• Authors : Marchand, Eric¹ ; Cordier, Jean-François²

• Source: Orphanet Journal of Rare Diseases. 2006, Vol. 1, p11-4. 4p.

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Hypersensitivity pneumonitis.

• Authors : Lacasse, Yves¹ ; Cormier, Yvon¹

• Source: Orphanet Journal of Rare Diseases. 2006, Vol. 1, p25-9. 9p. 6 Charts.

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Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.

• Authors : Jester, Sandra¹; Larsson, Julia¹; Eklund, Erik A.²

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-10. 10p.

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Characteristics and management of congenital esophageal stenosis: findings from a multicenter study.

• Authors : Michaud, Laurent¹ ; Coutenier, Frédéric² ; Podevin, Guillaume³

• Source: Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-14. 14p.

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Natural history of angiomyolipoma in lymphangioleiomyomatosis: implications for screening and surveillance.

• Authors : Yeoh, Zhao W.¹ ; Navaratnam, Vidya² ; Bhatt, Rupesh³

• Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p2-15. 14p.

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Identification and characterisation of eight novel SERPINA1 Null mutations

• Authors : Ferrarotti, Ilaria^1,2 (AUTHOR) ; Carroll, Tomás P³ (AUTHOR); Ottaviani, Stefania¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p172-180. 9p. 3 Charts, 1 Graph.

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Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

• Authors : Hildebrandt, Jenna; Yalcin, Ebru; Bresser, Hans-Georg ...

Subjects: EXPRESSION; Medicine(all); Male

• Source: Orphanet Journal of Rare DiseasesORPHANET JOURNAL OF RARE DISEASES

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Diagnosis and treatment of congenital abdominal aortic aneurysm: a systematic review of reported cases.

• Authors : Yamei Wang^1,2 ; Yuhong Tao¹

• Source: Orphanet Journal of Rare Diseases. Jan2015, Vol. 10 Issue 1, p117-130. 14p.

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Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).

• Authors : Karall, Daniela¹ ; Brunner-Krainz, Michaela²; Kogelnig, Katharina¹

• Source: Orphanet Journal of Rare Diseases. Apr2015, Vol. 10 Issue 1, p1-11. 11p.

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Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires.

• Authors : Regnault, Antoine¹ (AUTHOR) ; Burlina, Alberto² (AUTHOR); Cunningham, Amy³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. May2015, Vol. 10 Issue 1, p59-76. 18p. 1 Diagram, 8 Charts.

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