ISSN: 1735-4668

Vol. 6 No. 4 (2012)

Cover page


Infantile-Onset Pompe Disease

Mahmoud Reza ASHRAFI, Alireza TAVASOLI

Iranian Journal of Child Neurology, Vol. 6 No. 4 (2012), 30 December 2012 , Page 7-9
https://doi.org/10.22037/ijcn.v6i4.3890

 

How to Cite this Article: Ashrafi MR, Tavasoli AR. Infantile-Onset Pompe Disease. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):7-9.

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References:

1. Kishnani PS, Steiner RD. Pompe disease diagnosis and management guidelines. American J med genetic. 2006 .Vol; 8; no5.

2. Case SE, Beckemyer AA. Infantile pompe disease on ERT-Updateonclinicalpresentation,musculoskeletal management, and Exercise considerations. American J med genetic.160C:69-79(2012).

3. Rocco MD,Buzzi D. Glycogen storage disease type II:clinical overview. Acta myologica. 2007; XXVI; P.42-44.

4. Fenichel GM.Clinical pediatric neurology. Sixth edition.2009; p.174,188.

5.Swaiman KF, Ashwal S. Swaimans’  pediatric neurology. Fifth edition .2012 .Vol.1,p.378-380.

 

 

 

 

Clinical Manifestations of Type 1 Gaucher Disease

Shadab SALEHPOUR

Iranian Journal of Child Neurology, Vol. 6 No. 4 (2012), 30 December 2012 , Page 13-14
https://doi.org/10.22037/ijcn.v6i4.3895

 

How to Cite this Article: Salehpour Sh. Clinical Manifestations of Type 1 Gaucher Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):13-14.

pls see PDF.


References

1. Beutler E, Grabowski GA. Gaucher disease. In: Metabolic and molecular bases of inherited disease, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York 2001: 3635.

2. Cox TM, Schofield JP.   Gaucher’s disease: clinical features  and   natural   history.   Baillieres   Clin Haematol. 1997 Dec;10(4):657-89.

 

 

Gastrointestinal Symptoms in Lysosmal Disease

Farid IMANZADEH

Iranian Journal of Child Neurology, Vol. 6 No. 4 (2012), 30 December 2012 , Page 17-18
https://doi.org/10.22037/ijcn.v6i4.3898

 

How to Cite this Article: Imanzadeh F. Gastrointestinal Symptoms in Lysosmal Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):17-18.

pls see PDF.

 

References:

1. Semenza  GL,  Pyeritz  RE.  Respiratory complications of mucopolysaccharide storage disorders. Medicine (Baltimore) 1988; 67:209.

2.   Wraith   JE,   Scarpa   M,   Beck   M,   et   al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008; 167:267.

3. Stevens JM, Kendall BE, Crockard HA, Ransford   A.   The   odontoid   process   in Morquio-Brailsford’s disease. The effects of occipitocervical fusion. J Bone Joint Surg Br 1991; 73:851.

4.   Jones AE, Croley TF. Morquio syndrome and anesthesia. Anesthesiology 1979; 51:261.

5.   Ashraf J, Crockard HA, Ransford AO, Stevens JM. Transoral decompression and posterior stabilisation in Morquio’s disease. Arch Dis Child 1991; 66:1318.

6.  Neufeld EF, Muenzer J. The metabolic and molecular bases of inherited disease, Scriver C, Beaudet AL, Valle D, Sly W (Eds), McGraw- Hill, New York 2001. p.3421.

7.   Wraith   JE.   The   mucopolysaccharidoses:   a clinical review and guide to management. Arch Dis Child 1995; 72:263.

8.   Cleary MA, Wraith JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr 1995; 84:337.

9.   Elsner B. Ultrastructure of the rectal wall in Hunter’s   syndrome.   Gastroenterology   1970; 58:856.

10. Cleary   MA,   Wraith   JE.   Management   of mucopolysaccharidosis type III. Arch Dis Child 1993; 69:403.

 

Lysosomal Storage Disease in Iran (Report of Molecular Study)

Massoud HOUSHMAND, Seyed Hassan TONEKABONI, Parvaneh KARIMZADEH, Omid ARYANi, Mahmoudreza ASHRAFI, Shadab SALEHPOUR, Shervin BADV, Marjan SHAKIBA, Mohammad Reza ALAEE, Shahla FARSHIDI

Iranian Journal of Child Neurology, Vol. 6 No. 4 (2012), 30 December 2012 , Page 22
https://doi.org/10.22037/ijcn.v6i4.3908

How to Cite this Article: Houshmand M, Tonekaboni SH, Karimzadeh P, Aryani O, AshrafiMR, Salehpour Sh, Badv Sh, Shakiba M, Alaee MR, Farshid Sh. Lysosomal Storage Disease inIran. (Report of Molecular Study). Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1): 22.

 

Pls see PDF.