Clinical course of sly syndrome (mucopolysaccharidosis type VII) (Q24658556)

11

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Robert D. Steiner

object named as

Robert D Steiner

3

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Roberto Giugliani

13

object named as

Roberto Giugliani

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author name string

Adriana M Montaño

1

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Ngu Lock-Hock

2

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Marina Szlago

5

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Robert Greenstein

6

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Mercedes Pineda

7

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Antonio Gonzalez-Meneses

8

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Mahmut Çoker

9

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Dennis Bartholomew

10

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Raymond Wang

12

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Alfons Macaya

14

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Gregory Pastores

15

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Anastasia K Ketko

16

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Fatih Ezgü

17

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Akemi Tanaka

18

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Laila Arash

19

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Michael Beck

20

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Rena E Falk

21

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Kaustuv Bhattacharya

22

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José Franco

23

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Klane K White

24

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Grant A Mitchell

25

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Loreta Cimbalistiene

26

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Max Holtz

27

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William S Sly

Journal of Medical Genetics

28

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language of work or name

English

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publication date

June 2016

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published in

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volume

53

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page(s)

403-18

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issue

6

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cites work

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Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma

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Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function

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Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

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Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII)

28 September 2017

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Cloning and characterization of the human beta-glucuronidase gene

28 September 2017

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Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

28 September 2017

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First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

28 September 2017

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Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.

30 May 2018

1 reference

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30 May 2018

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Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII.

30 May 2018

1 reference

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Molecular analysis of mucopolysaccharidosis type VII

30 May 2018

1 reference

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beta-Glucuronidase deficiency as a cause of fetal hydrops

30 May 2018

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Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

30 May 2018

1 reference

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Complete heart block during anesthetic management in a patient with mucopolysaccharidosis type VII.

21 January 2018

1 reference

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Adeno-associated virus type 5 reduces learning deficits and restores glutamate receptor subunit levels in MPS VII mice CNS.

21 January 2018

1 reference

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Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs

21 January 2018

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Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates.

21 January 2018

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Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency.

28 November 2018

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Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

28 November 2018

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Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation.

28 November 2018

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Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation

28 November 2018

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12 December 2020

Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia

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12 December 2020

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site

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12 December 2020

Intrauterine growth acceleration in the case of a severe form of mucopolysaccharidosis type VII

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12 December 2020

Sly Disease: Mucopolysaccharidosis Type VII

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12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

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12 December 2020

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

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12 December 2020

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies

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Incidence of the mucopolysaccharidoses in Western Australia

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12 December 2020

Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis

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12 December 2020

A new case of mucopolysaccharidosis type VII with major skeletal abnormalities

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12 December 2020

Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature

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12 December 2020

Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy

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12 December 2020

Quantitation and biosynthesis of beta-glucuronidase cross-reactive material in fibroblasts from patients with mucopolysaccharidosis VII

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12 December 2020

Atlantoaxial instability in mucopolysaccharidosis type VII

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12 December 2020

Cumulative incidence rates of the mucopolysaccharidoses in Germany

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12 December 2020

beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

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12 December 2020

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

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12 December 2020

Prenatal diagnosis of lysosomal storage diseases using fetal blood

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12 December 2020

β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis

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12 December 2020

Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

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12 December 2020

Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites

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Chondroitin-6-sulfate mucopolysaccharidosis in conjuntion withlymphopenia, defective cellular immunity and the nephrotic syndrome

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Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII

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Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings

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[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]

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12 December 2020