[HTML] Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p. Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case …
A Nasereddin, S Ereqat - Journal of Medical Case Reports, 2018
… pulmonary function. Case presentation. We describe an 11-month-old Palestinian baby
boy with hepatosplenomegaly, hypotonia, delayed motor development, laryngomalacia,
bilateral cherry-red spots, and failure to thrive. Metabolic …
boy with hepatosplenomegaly, hypotonia, delayed motor development, laryngomalacia,
bilateral cherry-red spots, and failure to thrive. Metabolic …
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Is Tongue-Lip Adhesion or Mandibular Distraction More Effective in Relieving Obstructive Apnea in Infants with Robin Sequence?
CM Resnick, CE Calabrese, R Sahdev, BL Padwa - Journal of Oral and Maxillofacial …, 2018
… Direct laryngoscopy and bronchoscopy were performed before TLA and MDO in all
patients to assess the site(s) of obstruction and rule out a major contribution of
laryngomalacia, tracheomalacia, or subglottic stenosis to the OA …
patients to assess the site(s) of obstruction and rule out a major contribution of
laryngomalacia, tracheomalacia, or subglottic stenosis to the OA …
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