Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K.
Am J Hum Genet. 1996 May;58(5):914-22.
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Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
Isbrandt D, Hopwood JJ, von Figura K, Peters C.
Hum Mutat. 1996;7(4):361-3. No abstract available.

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Isbrandt D, von Figura K.
Biochim Biophys Acta. 1995 Dec 27;1264(3):265-7.
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Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C.
J Biol Chem. 1994 Apr 1;269(13):9638-43.
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Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Voskoboeva E, Isbrandt D, von Figura K, Krasnopolskaya X, Peters C.
Hum Genet. 1994 Mar;93(3):259-64.

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C.
Am J Hum Genet. 1994 Mar;54(3):454-63.
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