Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Pulmonary alveolar microlithiasis is an autosomal recessive disorder caused by mutations of the SLC34A2 gene. The clinical cause is characterized by calcification that form in the distal airwaysand deteriorate lung function.
| 1. |
Corut A et al. (2006) Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 
|
| 2. |
CAFFREY PR et al. (1965) PULMONARY ALVEOLAR MICROLITBIASIS OCCURRING IN PREMATURE TWINS.
|
| 3. |
YANG SP et al. (1963) PULMONARY ALVEOLAR MICROLITHIASIS; A REPORT OF TWO YOUNGEST CASES IN A FAMILY.
|
| 4. |
None (1962) Pulmonary alveolar microlithiasis.
|
| 5. |
ESGUERRA GOMEZ G et al. (1959) Familial pulmonary alveolar microlithiasis: four cases from Colombia, S. A.; is microlithiasis also environmental disease.
|
| 6. |
SOSMAN MC et al. (1957) The familial occurrence of pulmonary alveolar microlithiasis.
|
| 7. |
Brandenburg VM et al. (2003) Images in clinical medicine. Pulmonary alveolar microlithiasis.
|
| 8. |
Castellana G et al. (2002) Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature.
|
| 9. |
Ucan ES et al. (1993) Pulmonary alveolar microlithiasis: review of Turkish reports.
|
| 10. |
Cale WF et al. (1983) Transbronchial biopsy of pulmonary alveolar microlithiasis.
|
| 11. |
Prakash UB et al. (1983) Pulmonary alveolar microlithiasis. A review including ultrastructural and pulmonary function studies.
|
| 12. |
O'Neill RP et al. (1967) Pulmonary alveolar microlithiasis--a family study.
|
| 13. |
López-Areal L et al. (1965) [Infantile familial pulmonary alveolar microlithiasis. Description of 5 cases in 2 families].
|
| 14. |
Balikian JP et al. (1968) Pulmonary alveolar microlithiasis. Report of five cases with special reference to roentgen manifestations.
|
| 15. |
Burguet W et al. (1967) [The heredity of pulmonary alveolar microlithiasis. Apropos of a new familial observation].
|
| 16. |
Ritchie DA et al. (1992) An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia.
|
| 17. |
Senyiğit A et al. (2001) Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey.
|
| 18. |
OMIM.ORG article Omim 265100
|
| 19. |
Orphanet article Orphanet ID 60025
|
| 20. |
Wikipedia article Wikipedia EN (Pulmonary_alveolar_microlithiasis)
|
 |
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
