A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

Mamatha Ramaswamy; Victor Skrinska; Ghassan Abdoh; Laila Mahmoud Ahmed; Rola Mitri; Ravi Joshi

doi:10.3390/ijns3010005

A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

International Journal of Neonatal Screening ◽

10.3390/ijns3010005 ◽

2017 ◽

Vol 3 (1) ◽

pp. 5 ◽

Cited By ~ 1

Author(s):

Mamatha Ramaswamy ◽

Victor Skrinska ◽

Ghassan Abdoh ◽

Laila Mahmoud Ahmed ◽

Rola Mitri ◽

...

Keyword(s):

Newborn Screening ◽

Rare Case ◽

Malonic Aciduria

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Malonic aciduria: long-term follow-up of new patients detected by newborn screening

European Journal of Pediatrics ◽

10.1007/s00431-014-2421-4 ◽

2014 ◽

Vol 173 (12) ◽

pp. 1719-1722 ◽

Cited By ~ 7

Author(s):

Fabian Baertling ◽

Ertan Mayatepek ◽

Eva Thimm ◽

Andrea Schlune ◽

Alexander Kovacevic ◽

...

Keyword(s):

Newborn Screening ◽

Long Term Follow Up ◽

Malonic Aciduria

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Identification of Pulmonary Deposits from a Sandpaper Worker: A Study by Electron Microscopy and X-Ray Microanalysis

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100053061 ◽

1982 ◽

Vol 40 ◽

pp. 52-53

Author(s):

S. K. Peng ◽

M.A. Egy ◽

J. K. Singh ◽

M.B. Bishop

Keyword(s):

Electron Microscopy ◽

Environmental Pollution ◽

Rare Case ◽

Interstitial Fibrosis ◽

X Ray ◽

Documented Case ◽

Etiologic Agents ◽

Pulmonary Interstitial Fibrosis ◽

Gold Miners ◽

Pulmonary Changes

Electron microscopy and energy dispersive x-ray microanalysis (EDXA) are found to be very useful tools for identification of etiologic agents in pneumoconiosis or interstitial pulmonary disorders. Pulmonary interstitial fibrosis and granulomatosis are frequently associated with occupational and environmental pollution. Numerous reports of pneumoconiosis in various occupations such as coal and gold miners are presented in the literature. However, there is no known documented case of pulmonary changes in workers in the sandpaper industry. This study reports a rare case of pulmonary granulomatosis containing deposits from abrasives of sandpaper diagnosed by using EDXA.

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