Iranian Journal of Child Neurology

Second Neuro Metabolic Disorder Congress

20 Dec 2012

Mofid Children Hospital, Tehran, Iran

Title of Congress "Lysosomal Disorders"

supplement issue includes almost  all of  lectures' abstarct in this congress.

How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2.

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How to Cite this Article: Zamani Gh. Approach to Lysosomal Disorders. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):3-4

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How to Cite this Article: Alaee MR. Mucopolysaccharidosis Type 1. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):5.

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How to Cite this Article: Karimzadeh P. Fabery Disease (A kind of Lysosomal Storage Disease). Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):6.

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.

How to Cite this Article: Tonekaboni S.H. Juvenile Pompe. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):10.

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How to Cite this Article: Nilipour Y. Lysosomal Myopathies. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):11.

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How to Cite this Article: Taghdiri MM. Type 2 Gaucher Disease (Acute Infantile Gaucher Disease or Neuropathic Type). Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):12.

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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.

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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.

How to Cite this Article: Shakiba M. Diagnosis in Lysosomal Disorders. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):15- 16.

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

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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.

How to Cite this Article: Alaei F. Cardiac Involvement in Lysosomal Diseases. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1): 19.

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How to Cite this Article: Shiari R, VAdood Javadi P. Rheumatologic Manifestations of Lysosomal Storage Diseases. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1): 20.

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How to Cite this Article: Ahmadabadi F. Neurometabolic Registry Site in Iran. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1): 21.

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.

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How to Cite this Article: Mohammadi M. Electrodiagnostic Studies, “Role in the Diagnosis and Follow-up in Children with Pompe Disease”. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):23.

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