Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

By Battaile K.P.   Battaile B.C.   Merkens L.S.   Maslen C.L.   Steiner R.D.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 1, 2001-01 ,pp. : 67-71

Academic Press

Access to resources Recommend Favorite

Fanconi-Bickel Syndrome - A Congenital Defect of Facilitative Glucose Transport

By  

Current Molecular Medicine, Vol. 2, Iss. 2, 2002-03 ,pp. : 213-227

Bentham Science Publishers

Access to resources Recommend Favorite

Clinical Utility of Neuronal Cells Directly Converted from Fibroblasts of Patients for Neuropsychiatric Disorders: Studies of Lysosomal Storage Diseases and Channelopathy

By  

Current Molecular Medicine, Vol. 15, Iss. 2, 2015-02 ,pp. : 138-145

Bentham Science Publishers

Access to resources Recommend Favorite

Lysosomal Acid Lipase Mutations That Determine Phenotype in Wolman and Cholesterol Ester Storage Disease

By Anderson R.A.   Bryson G.M.   Parks J.S.  

Molecular Genetics and Metabolism, Vol. 68, Iss. 3, 1999-11 ,pp. : 333-345

Academic Press

Access to resources Recommend Favorite

Chediak-Higashi Syndrome: a Clinical and Molecular View of a Rare Lysosomal Storage Disorder

By  

Current Molecular Medicine, Vol. 2, Iss. 5, 2002-08 ,pp. : 469-477

Bentham Science Publishers

Access to resources Recommend Favorite