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

scientific article published on 16 April 2013

Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2013.04.009
P698PubMed publication ID23683769
P5875ResearchGate publication ID236918202

P50authorPravin PatelQ57014429
Jan RyerseQ115615195
P2093author name stringYasuyuki Suzuki
Shunji Tomatsu
Tadao Orii
Eriko Yasuda
Barbara Nagel
Tsuyoshi Takami
Jozef Zustin
Tsutomu Shimada
Kenji E Orii
William Mackenzie
Katsuji Shimizu
Mary Theroux
Hiroki Iida
Kazunari Fushimi
Kristen Ruhnke
Bobbie Boyce
Carol Barone
Terry Kokas
P2860cites workClinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVAQ30537233
Skeletal dysplasias: evaluation with impulse oscillometry and thoracoabdominal motion analysisQ35917712
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatmentQ37867134
Neuronal Cytoplasmic Globules in the Brain in Morquio's SyndromeQ43682466
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A diseaseQ44635437
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.Q46036993
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfataseQ46747931
Anesthetic care and perioperative complications of children with Morquio syndromeQ48151553
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteinsQ48169854
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.Q51762816
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.Q52005459
A molecular and histological characterization of cartilage from patients with Morquio syndromeQ56994311
Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA diseaseQ57646236
Fetal presentation of Morquio disease type AQ67471346
Morquio disease: The role of cartilage canals in the pathogenesis of chondrogenic dwarfismQ84963041
P433issue3
P304page(s)301-311
P577publication date2013-04-16
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titlePathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder
P478volume109

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cites work (P2860)
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Q37243265Activity of daily living for Morquio A syndrome.
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