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Perioperative Pulmonary Optimization With Average Volume-Assured Pressure Support of a Pediatric Patient With Ullrich Congenital Muscular Dystrophy: A Case Report
A & A Practice
◽
10.1213/xaa.0000000000001504
◽
2021
◽
Vol 15
(7)
◽
pp. e01504
Author(s):
Hannah Lovejoy
◽
Lauren Nicole Geib
◽
Camila B. Walters
Keyword(s):
Case Report
◽
Muscular Dystrophy
◽
Pediatric Patient
◽
Pressure Support
◽
Congenital Muscular Dystrophy
◽
Average Volume
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
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Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
BMC Medical Genetics
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◽
2013
◽
Vol 14
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◽
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Author(s):
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...
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Muscular Dystrophy
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Rare Case
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Congenital Muscular Dystrophy
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Terminal Domain
◽
Ullrich Congenital Muscular Dystrophy
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Mandibular and Maxillary Cysts in a Pediatric Patient with Pierre Robin Sequence and Ullrich Congenital Muscular Dystrophy
Anesthesiology
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10.1097/aln.0000000000003503
◽
2020
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Vol 133
(4)
◽
pp. 919-920
Author(s):
Kevin Win Duong
◽
Sonya Chokshi Reddy
◽
Edward P. Buchanan
◽
Julia Han Chen
Keyword(s):
Muscular Dystrophy
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Pediatric Patient
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Congenital Muscular Dystrophy
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Pierre Robin Sequence
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Robin Sequence
◽
Ullrich Congenital Muscular Dystrophy
◽
Pierre Robin
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EP.122Recurrent pneumothorax in an adult case of Ullrich congenital muscular dystrophy – case report and review of literature
Neuromuscular Disorders
◽
10.1016/j.nmd.2019.06.580
◽
2019
◽
Vol 29
◽
pp. S203
Author(s):
M. Desikan
◽
R. Quinlivan
◽
R. Astin
Keyword(s):
Case Report
◽
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
◽
Review Of Literature
◽
Adult Case
◽
Ullrich Congenital Muscular Dystrophy
Download Full-text
Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
World Journal of Clinical Cases
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10.12998/wjcc.v10.i1.338
◽
2022
◽
Vol 10
(1)
◽
pp. 338-344
Author(s):
Jun Hu
◽
Yan-Hui Chen
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Xin Fang
◽
Yu Zhou
◽
Feng Chen
Keyword(s):
Case Report
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Prenatal Diagnosis
◽
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
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Clinical Manifestations
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Ullrich Congenital Muscular Dystrophy
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A rare case report: Bethlem myopathy and ullrich congenital muscular dystrophy
Journal of the Neurological Sciences
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10.1016/j.jns.2017.08.776
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2017
◽
Vol 381
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pp. 272
Author(s):
P.R. Tamura
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R. Iegoroff
◽
L.P. Crotti
◽
A.J. Godoy
Keyword(s):
Case Report
◽
Muscular Dystrophy
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Rare Case
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Congenital Muscular Dystrophy
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Bethlem Myopathy
◽
Ullrich Congenital Muscular Dystrophy
◽
Rare Case Report
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COL6A1 related muscular dystrophy in Landseer dogs – a canine model for Ullrich congenital muscular dystrophy
Muscle & Nerve
◽
10.1002/mus.27162
◽
2020
◽
Author(s):
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◽
Frank Steffen
◽
Jochen Spennes
◽
Tosso Leeb
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Keyword(s):
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Congenital Muscular Dystrophy
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◽
Ullrich Congenital Muscular Dystrophy
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A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy
Neuromuscular Disorders
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10.1016/j.nmd.2017.06.055
◽
2017
◽
Vol 27
◽
pp. S106
Author(s):
A. Reghan Foley
◽
S. Donkervoort
◽
V. Bolduc
◽
Y. Hu
◽
B. Cummings
◽
...
Keyword(s):
Muscular Dystrophy
◽
Congenital Muscular Dystrophy
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Distinct Phenotype
◽
Ullrich Congenital Muscular Dystrophy
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Ullrich Congenital Muscular Dystrophy (Ullrich disease)
Encyclopedia of Genetics, Genomics, Proteomics and Informatics
◽
10.1007/978-1-4020-6754-9_17718
◽
2008
◽
pp. 2059-2059
Keyword(s):
Muscular Dystrophy
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Congenital Muscular Dystrophy
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Ullrich Congenital Muscular Dystrophy
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Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study
Journal of Child Neurology
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10.1177/0883073817738466
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2017
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pp. 1099-1103
Author(s):
Biswaroop Chakrabarty
◽
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◽
Sheffali Gulati
◽
Chitra Sarkar
Keyword(s):
Muscular Dystrophy
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Observational Study
◽
Skin Biopsy
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Congenital Muscular Dystrophy
◽
Ullrich Congenital Muscular Dystrophy
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C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy
Neuromuscular Disorders
◽
10.1016/j.nmd.2007.06.282
◽
2007
◽
Vol 17
(9-10)
◽
pp. 845
Author(s):
P. Richard
◽
C. Ledeuil
◽
C. Gartioux
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...
Keyword(s):
Muscular Dystrophy
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Congenital Muscular Dystrophy
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Ullrich Congenital Muscular Dystrophy
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