(Q41740847)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25971245%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy (English)

1 reference

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8 March 2020

0 references

1 reference

4

1 reference

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8 March 2020

Thomas S Denney

10

1 reference

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8 March 2020

9

Nouha Salibi

0 references

author name string

Heather L Gray-Edwards

1

1 reference

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8 March 2020

Brandon L Brunson

2

1 reference

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8 March 2020

Merrilee Holland

3

1 reference

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8 March 2020

Allison M Bradbury

5

1 reference

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8 March 2020

Victoria J McCurdy

6

1 reference

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8 March 2020

Patricia M Beadlescomb

7

1 reference

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8 March 2020

Ashley N Randle

8

1 reference

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8 March 2020

Aime K Johnson

12

1 reference

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8 March 2020

Meredith L Voyles

13

1 reference

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8 March 2020

Ronald D Montgomery

14

1 reference

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8 March 2020

Diane U Wilson

15

1 reference

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8 March 2020

Judith A Hudson

16

1 reference

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8 March 2020

Nancy R Cox

17

1 reference

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8 March 2020

Henry J Baker

18

1 reference

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8 March 2020

Miguel Sena-Esteves

19

1 reference

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8 March 2020

Douglas R Martin

20

1 reference

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8 March 2020

Ronald J Beyers

11

1 reference

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8 March 2020

language of work or name

1 reference

8 May 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25971245%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

8 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25971245%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

116

1 reference

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8 March 2020

issue

1-2

1 reference

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8 March 2020

page(s)

80-87

1 reference

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Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease

8 March 2020

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1 reference

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7 January 2021

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Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism

7 January 2021

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Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy.

7 January 2021

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Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management

7 January 2021

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Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase

7 January 2021

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Effects of neonatal enzyme replacement therapy and simvastatin treatment on cervical spine disease in mucopolysaccharidosis I dogs

7 January 2021

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7 January 2021

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GM 2 Ganglioside Lysosomal Storage Disease in Cats with α-Hexosaminidase Deficiency

7 January 2021

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Alterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis

7 January 2021

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Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report

7 January 2021

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Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.

7 January 2021

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The Quantification of Glycosaminoglycans: A Comparison of HPLC, Carbazole, and Alcian Blue Methods

7 January 2021

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Hurler Disease Bone Marrow Stromal Cells Exhibit Altered Ability to Support Osteoclast Formation

7 January 2021

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Therapeutic approaches to bone pathology in Gaucher disease: past, present and future

7 January 2021

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High resolution MRI anatomy of the cat brain at 3 Tesla

7 January 2021

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Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

7 January 2021

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Bilateral patellar dislocation associated with alpha-mannosidase deficiency.

7 January 2021

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Animal models for mucopolysaccharidosis disorders and their clinical relevance

7 January 2021

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Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

7 January 2021

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Physiological substrates for human lysosomal beta -hexosaminidase S.

7 January 2021

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Hepatic storage of oligosaccharides and glycolipids in a cat affected with GM1 gangliosidosis

7 January 2021

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Spinal cord compression in young children with type VI mucopolysaccharidosis.

7 January 2021

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Radiologic and neuroradiologic findings in the mucopolysaccharidoses.

7 January 2021

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The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study

7 January 2021

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

7 January 2021

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Sustained normalization of neurological disease after intracranial gene therapy in a feline model

7 January 2021

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Widespread correction of central nervous system disease after intracranial gene therapy in a feline model of Sandhoff disease

7 January 2021

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Miscellaneous non-inflammatory musculoskeletal conditions. Gaucher disease and bone

7 January 2021

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7 January 2021

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Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI.

7 January 2021

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AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system

7 January 2021

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Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis

7 January 2021

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Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

7 January 2021

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Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease)

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Degradation of keratan sulfate by ß-N-acetylhexosaminidases in GM2-gangliosidosis

7 January 2021

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7 January 2021

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The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion

7 January 2021

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2015.05.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25971245%20AND%20SRC:MED&resulttype=core&format=json

release_2degi4kjwzbklciva22njzktou

8 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2degi4kjwzbklciva22njzktou

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference