Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects

By Santer R.   Muhle H.   Suormala T.   Baumgartner E.R.   Duran M.   Yang X.   Aoki Y.   Suzuki Y.   Stephani U.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 3, 2003-07 ,pp. : 160-166

Elsevier

Access to resources Recommend Favorite

A new simple approach for the determination of pyrimidine 5′‐nucleotidase activity in human erythrocytes using an ELISA reader

By  

International Journal Of Laboratory Hematology, Vol. 34, Iss. 3, 2012-06 ,pp. : 232-236

John Wiley & Sons Inc

Access to resources Recommend Favorite

Genetic Heterogeneity of Adrenocorticotropin (ACTH) Resistance Syndromes: Identification of a Novel Mutation of the ACTH Receptor Gene in Hereditary Glucocorticoid Deficiency

By Wu S-M.   Stratakis C.A.   Chan C.H.Y.   Hallermeier K.M.   Bourdony C.J.   Rennert O.M.   Chan W-Y.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 4, 1998-08 ,pp. : 256-265

Academic Press

Access to resources Recommend Favorite

Molecular Genetic, Biochemical, and Clinical Implications of Gonadotropin Receptor Mutations

By Chan W.Y.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 2, 1998-02 ,pp. : 75-84

Academic Press

Access to resources Recommend Favorite

Erythrocyte membrane protein defects in hereditary spherocytosis patients in Turkish population

By Ayhan Aylin Canbolat   Yildiz Inci   Yüzbaşıoğlu Sedef   Celkan Tiraje   Apak Hilmi   Ozkan Alp   Karaman Serap  

Hematology, Vol. 17, Iss. 4, 2012-07 ,pp. : 232-236

Maney Publishing

Access to resources Recommend Favorite