2,100 results

... associated with germline pathogenic variants in DGUOK . Differential Diagnosis Multisystem Disease The neonatal multisystem form of deoxyguanosine kinase (DGUOK) deficiency needs ...

... than previously thought. When a male has post-neonatal-onset disease, the risk for symptoms in heterozygous females in his family is much ... females heterozygous for pathogenic variants that cause severe neonatal-onset ... However, symptoms of OTC deficency were reported in females heterozygous ...

... severe neonatal onset to childhood onset with mild symptoms. Neonatal-onset disease manifests within hours to days after birth. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, ...

... AD AR Congenital hyperinsulinemia Hypoglycemia (ranging from severe neonatal-onset disease to childhood-onset disease w/mild symptoms in FHI) 3 Dysmorphism & growth deficiency are not ...

... in the differential diagnosis of AATD-related liver disease. The differential diagnosis of neonatal cholestasis also includes multiple metabolic diseases and other ...

... or Sentinel Surveillance/ or Seroepidemiologic Studies/ or Prenatal Diagnosis/ or Neonatal Screening/ or Infectious Disease Transmission, Vertical/ or Disease Transmission, Infectious/ or tm. ...

... Carlock et al 2019 ]. Differential Diagnosis The differential diagnosis for neonatal hepatotoxicity includes infectious diseases, obstructive biliary disease, and metabolic diseases; see Table ...

... Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008; 358 :605–14. [ ...

... of randomized trials comparing diagnosis of sickle cell disease by neonatal screening to clinical diagnosis also found no eligible studies. 4 A supplemental ...

... acid β-oxidation, with variable clinical severity. Severe neonatal-onset disease is most common, with symptoms evident within two days after birth; attenuated cases ...