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The National Information Centre for Metabolic Diseases

 

 

 

 

Metabolic Diseases

 

'N'

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Disease

 

Also Known as

 

N-Acetylglutamate Synthetase Deficiency    

NAGS

 

Nemaline Myopathy

Congenital Rod Disease

  Neuroacanthocytosis Chorea Acanthocytosis

 

Neurofibromatosis

Von Recklinghausen’s Disease

 

Neuropathy, Ataxia and Retinitis Pigmentosa       

NARP

 

Niemann Pick Disease – General

NP

 

Niemann Pick Disease – Type A   

NP-A

 

Niemann Pick Disease – Type B   

NP-B

 

Niemann Pick Disease – Type C   

NP-C 

 

Niemann Pick Disease – Type D   

NP-D 

 

Niemann Pick Disease – Type E   

NP-E

 

Non-Ketotic Hyperglycinaemia      

NKH

  Noonan Syndrome Male Turner Syndrome