Design and synthesis of substrates for newborn screening of Maroteaux–Lamy and Morquio A syndromes

The mucopolysaccharidoses (a review).

Albert Dorfman, Reuben Matalon · Proceedings of the National Academy of Sciences · 1976 · 129 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

Udo Klein, Hans Kresse, Kurt Von Figura · Proceedings of the National Academy of Sciences · 1978 · 127 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Martin Sadı́lek, C. Ronald Scott, František Tureček et al. · Clinical Chemistry · 2008 · 122 citations

Life Sciences, Biochemistry, Molecular Biology +17

Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

Hans Kresse, Eduard Paschke, Kurt Von Figura et al. · Proceedings of the National Academy of Sciences · 1980 · 110 citations · Full text

Life Sciences, Biochemistry, Pathobiology +13

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Martin Sadı́lek, C. Ronald Scott, František Tureček et al. · PubMed Central · 2008 · 71 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17