Disease: X-linked mental retardation Brooks type
- Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts
- Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis
- Analysis of normal and mutant iduronate-2-sulphatase conformation
- Anxiety, hyperactivity and stereotypy in a zebrafish model of fragile X syndrome and autism spectrum disorder
- Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases
- Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples
- Fasciculoventricular and atrioventricular accessory pathways in patients with Danon disease and preexcitation: A multicenter experience
- Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells
- HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
- Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients
- Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease
- Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
- Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology
- Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line
- Selective Deletion of Methyl CpG Binding Protein 2 from Parvalbumin Interneurons in the Auditory Cortex Delays the Onset of Maternal Retrieval in Mice