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Τετάρτη 7 Φεβρουαρίου 2018

Scholar : Laryngomalacia - νέα αποτελέσματα

[HTML] A Rare Case of Laryngeal Tuberculosis in Children

DP Wulandari, R Triasih, RP Nugraha - Otolaryngology Online Journal, 2017
… Endoscopic examination revealed type 1 laryngomalacia (redundancy of arytenoid tissue),
diffuse laryngeal edema, granulation around laryngeal inlet and arytenoid, and irregularities
in vocal cords mucosa with normal vocal cord movement …
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Efficacy of Genz-682452-mediated inhibition of glucosylceramide synthase in a mouse model of Sandhoff disease

J Marshall, JB Nietupski, D Bangari, H Park, K Randall… - Molecular Genetics and …, 2018
… range. Initial physical exam was unremarkable and she was classified as LOPD.
She was managed in the NICU for gastrointestinal reflux, laryngomalacia, hypertonia
and intermittent respiratory distress requiring O2. An ECHO …
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Diagnostic challenges for Pompe disease newborn screening in a pre-term infant

MV Marrero-Stein, D Kronn - Molecular Genetics and Metabolism, 2018
… range. Initial physical exam was unremarkable and she was classified as LOPD.
She was managed in the NICU for gastrointestinal reflux, laryngomalacia, hypertonia
and intermittent respiratory distress requiring O2. An ECHO …
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Late development of oculomotor apraxia in a male adolescent with Gaucher disease

SA Marcellus, JA Bernat, MD Holida - Molecular Genetics and Metabolism, 2018
… range. Initial physical exam was unremarkable and she was classified as LOPD.
She was managed in the NICU for gastrointestinal reflux, laryngomalacia, hypertonia
and intermittent respiratory distress requiring O2. An ECHO …
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Post-transplant iduronidase attenuates skeletal disease in MPS IH

TC Lund, WP Miller, GV Raymond, J Tolar, D Lowe… - Molecular Genetics and …, 2018
… range. Initial physical exam was unremarkable and she was classified as LOPD.
She was managed in the NICU for gastrointestinal reflux, laryngomalacia, hypertonia
and intermittent respiratory distress requiring O2. An ECHO …
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