Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. (Q46659043)

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1 March 2020

title

Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder (English)

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7

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16

Jan S Ryerse

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1 March 2020

author name string

Eriko Yasuda

1

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1 March 2020

Kazunari Fushimi

2

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1 March 2020

Yasuyuki Suzuki

3

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1 March 2020

Katsuji Shimizu

4

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1 March 2020

Tsuyoshi Takami

5

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1 March 2020

Jozef Zustin

6

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1 March 2020

Kristen Ruhnke

8

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1 March 2020

Tsutomu Shimada

9

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1 March 2020

Bobbie Boyce

10

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1 March 2020

Terry Kokas

11

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1 March 2020

Carol Barone

12

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1 March 2020

Mary Theroux

13

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1 March 2020

William Mackenzie

14

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1 March 2020

Barbara Nagel

15

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1 March 2020

Kenji E Orii

17

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1 March 2020

Hiroki Iida

18

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1 March 2020

Tadao Orii

19

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1 March 2020

Shunji Tomatsu

20

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publication date

16 April 2013

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Molecular Genetics and Metabolism

1 March 2020

published in

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volume

109

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1 March 2020

page(s)

301-311

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issue

3

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Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

1 March 2020

cites work

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Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

7 January 2021

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Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.

7 January 2021

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International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

7 January 2021

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Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment

7 January 2021

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Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

7 January 2021

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A molecular and histological characterization of cartilage from patients with Morquio syndrome

7 January 2021

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Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.

7 January 2021

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Neuronal Cytoplasmic Globules in the Brain in Morquio's Syndrome

7 January 2021

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Fetal presentation of Morquio disease type A

7 January 2021

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Morquio disease: the role of cartilage canals in the pathogenesis of chondrogenic dwarfism

7 January 2021

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Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

7 January 2021

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Anesthetic care and perioperative complications of children with Morquio syndrome.

7 January 2021

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Skeletal dysplasias: evaluation with impulse oscillometry and thoracoabdominal motion analysis

7 January 2021

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Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease

7 January 2021

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