Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference38 articles.
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2. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome;Jaeken;Clin Chim Acta,1984
3. Defects of N-glycan synthesis;Jaeken,1999
4. Carbohydrate deficient glycoprotein (CDG) syndrome type I;Jaeken;J Med Genet,1997
5. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease;Stibler;J Neurol Neurosurg Psychiatry,1994
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