REPORTING 7 POMPE PATIENTS IN IRAN

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EBRAHIMI MILAD; ROUZBAHANI REZA; POURFARZAM MORTEZA

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Paper Information

Journal: JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S) Year:2017 | Volume:35 | Issue:424 Page(s): 364-367

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Information Journal Paper

Title

REPORTING 7 POMPE PATIENTS IN IRAN

Author(s)

EBRAHIMI MILAD | ROUZBAHANI REZA | POURFARZAM MORTEZA | Issue Writer Certificate

Keywords

ALPHA-GLUCOSIDASEQ1

GLYCOGEN STORAGE DISEASE IIQ1

MUSCULAR WEAKNESSQ3

POMPE DISEASEQ1

Abstract

Background: Pompe is a progressive and rare disease with major form (infantile form) resulted from lack of lysosomal ALPHA-GLUCOSIDASE enzyme. This disease inherits in an autosomal recessive form and contains spectrum of different symptoms based on the age of onset. The variety of symptoms has seen in this disease like muscle weakness, cardio pulmonary problems, disability in daily routine works, and so on.Case Report: In this case study, we studied the characteristics of 7 established patients in Iran recognized from 8 years ago. The age range of these patients was from 6 months to 28 years.Conclusion: Different diagnosis time in patients, which is important, in this study was between 6 months to 28 years, which could cause many problems in patients whom their diagnosis was delayed.

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APA: Copy

EBRAHIMI, MILAD, ROUZBAHANI, REZA, & POURFARZAM, MORTEZA. (2017). REPORTING 7 POMPE PATIENTS IN IRAN. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), 35(424), 364-367. SID. https://sid.ir/paper/50301/en

Vancouver: Copy

EBRAHIMI MILAD, ROUZBAHANI REZA, POURFARZAM MORTEZA. REPORTING 7 POMPE PATIENTS IN IRAN. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)[Internet]. 2017;35(424):364-367. Available from: https://sid.ir/paper/50301/en

IEEE: Copy

MILAD EBRAHIMI, REZA ROUZBAHANI, and MORTEZA POURFARZAM, “REPORTING 7 POMPE PATIENTS IN IRAN,” JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), vol. 35, no. 424, pp. 364–367, 2017, [Online]. Available: https://sid.ir/paper/50301/en

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