Congenital anomalies are relatively common in CDG, including cerebellar vermis hypoplasia, eye malformations, cardiac defects, abnormal fat distribution, skeletal dysplasia, arachnodactyly or cleft palate. [els.net]

Although there was no preoperative history of frequent regurgitation, aspiration pneumonia, or sleep apnea at home, the patient had a mild sucking disorder and hypotonia. [jaclinicalreports.springeropen.com]

Fungal Infections Associated with Lymphe dema Lymphedema in Children Lymphoscintigraphy Magnetic Resonance Imaging Extraperitoneal para-aortic lymph node dissection (EPLND) Axillary node biopsy Sentinel Node Biopsy Small Needle Biopsy - Fine Needle Aspiration [lymphedemapeople.com]

Although there was no preoperative history of frequent regurgitation, aspiration pneumonia, or sleep apnea at home, the patient had a mild sucking disorder and hypotonia. [jaclinicalreports.springeropen.com]

Acetaminophen was also avoided in this case because of the fear of further deterioration of hepatic function caused by hepatotoxicity by acetaminophen. [jaclinicalreports.springeropen.com]

For a severe mutation like R141H, found in CDG-Ia patients from all over Europe, 5 genetic drift can be neglected. [jmg.bmj.com]

Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.com]