Related references
Note: Only part of the references are listed.New Dutch reference curves for birthweight by gestational age
Gerard H. A. Visser et al.
EARLY HUMAN DEVELOPMENT (2009)
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Ann Meyer et al.
HUMAN MUTATION (2008)
Sanfilippo syndrome: A mini-review
M. J. Valstar et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Scoring evaluation of the natural course of Mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)
Ann Meyer et al.
PEDIATRICS (2007)
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice
Kim M. Hemsley et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Gene therapy for mucopolysaccharidosis
Katherine P. Ponder et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2007)
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
Ewa Piotrowska et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
An adult Sanfilippo type a patient with homozygous mutation R206P in the sulfamidase gene
O Gabrielli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified iin patients with mucopolysaccharidosis type III A
N Muschol et al.
HUMAN MUTATION (2004)
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients:: Possible single origin for 1091delC mutation
A Chabás et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
G Yogalingam et al.
HUMAN MUTATION (2001)
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
CE Beesley et al.
JOURNAL OF MEDICAL GENETICS (2000)
Heparan N-sulfatase gene:: two novel mutations and transient expression of 15 defects
S Esposito et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2000)