| scholarly article | Q13442814 |
| P2093 | author name string | Lissens W | |
| Liebaers I | |||
| Kleijer WJ | |||
| Sly WS | |||
| Chabas A | |||
| Zabot MT | |||
| Islam MR | |||
| Fensom A | |||
| Young EP | |||
| Vervoort R | |||
| P2860 | cites work | Cloning, sequencing, and expression of cDNA for human beta-glucuronidase | Q24617413 |
| RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression | Q24633499 | ||
| Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity | Q24669886 | ||
| Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes | Q24671806 | ||
| Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 | ||
| Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site | Q71953325 | ||
| beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid | Q72924323 | ||
| Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase | Q26778389 | ||
| Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms | Q28256462 | ||
| beta-Glucuronidase from Escherichia coli as a gene-fusion marker | Q28300102 | ||
| Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy | Q33668737 | ||
| Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val. | Q33770884 | ||
| Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis | Q34205101 | ||
| Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes | Q34335974 | ||
| Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. | Q34335981 | ||
| C-terminal processing of human beta-glucuronidase. The propeptide is required for full expression of catalytic activity, intracellular retention, and proper phosphorylation. | Q34343784 | ||
| The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase | Q34366042 | ||
| Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants | Q35013854 | ||
| A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene | Q35644473 | ||
| The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene | Q35889375 | ||
| Complete sequence and organization of the murine beta-glucuronidase gene | Q36438456 | ||
| Nucleotide sequence of rat preputial gland beta-glucuronidase cDNA and in vitro insertion of its encoded polypeptide into microsomal membranes | Q36458527 | ||
| Nonsense mutations in the dihydrofolate reductase gene affect RNA processing | Q36769262 | ||
| Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients | Q37010270 | ||
| Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family | Q39684027 | ||
| PCR amplification of highly GC-rich DNA template after denaturation by NaOH | Q40413069 | ||
| Protocols for an improved detection of point mutations by SSCP | Q40505519 | ||
| Structure-independent DNA amplification by PCR using 7-deaza-2'-deoxyguanosine | Q40556497 | ||
| Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy | Q40556651 | ||
| Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene | Q40584423 | ||
| Cloning and characterization of the human beta-glucuronidase gene | Q41231311 | ||
| Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. | Q41441691 | ||
| beta-Glucuronidase deficiency as a cause of fetal hydrops | Q44154764 | ||
| Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency | Q45083643 | ||
| Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis | Q48727247 | ||
| Mucopolysaccharidosis type VII. A morphologic, cytochemical, and ultrastructural study of the blood and bone marrow. | Q50932679 | ||
| Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. | Q52270868 | ||
| Variation in the phenotypic expression of beta-glucuronidase deficiency | Q67506997 | ||
| Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy | Q67597083 | ||
| Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII | Q67836143 | ||
| Lysosomal storage diseases presenting as transient or persistent hydrops fetalis | Q67871019 | ||
| β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis | Q67903448 | ||
| Efficient production of single-stranded DNA as long as 2 kb for sequencing of PCR-amplified DNA | Q68181124 | ||
| The skipping of constitutive exons in vivo induced by nonsense mutations | Q70554031 | ||
| [Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)] | Q71580509 | ||
| Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis | Q71620379 | ||
| Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature | Q71623845 | ||
| Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene | Q71937474 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hydrops fetalis | Q1679678 |
| P304 | page(s) | 457-471 | |
| P577 | publication date | 1996-03-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII | |
| P478 | volume | 58 |
| Q93189430 | A rare late progression form of Sly syndrome mucopolysaccharidosis |
| Q34446285 | Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice. |
| Q24658556 | Clinical course of sly syndrome (mucopolysaccharidosis type VII) |
| Q35447243 | Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero |
| Q82365052 | Cumulative incidence rates of the mucopolysaccharidoses in Germany |
| Q50289078 | Defective GUSB does not hydrolyse (HA)2 |
| Q55214594 | Defective GUSB does not hydrolyse CS/HS precursor |
| Q55214593 | Defective GUSB does not hydrolyse GlcA-β1,3-GlcNAc |
| Q48227907 | Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. |
| Q38735623 | Epidemiology of mucopolysaccharidoses. |
| Q41101251 | First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII. |
| Q35367599 | Glycosaminoglycan storage disorders: a review |
| Q33781490 | Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse |
| Q27007539 | Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature |
| Q37401176 | Lysosomal storage disorders in the newborn |
| Q45316412 | MPS VII - Sly syndrome |
| Q34380739 | Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis |
| Q36219704 | Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene |
| Q34624792 | Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). |
| Q35032587 | Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase |
| Q41557034 | The role of beta-glucuronidase in drug disposition and drug targeting in humans |
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