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Neonatal death
- ... G. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome? Am J Med Genet. 1996 ...
- ... Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death Genetic Testing Registry: GRACILE syndrome GRACILE syndrome National ...
- ... missing fingernails, teeth that are present from birth (neonatal teeth), and abnormalities of the heart muscle (cardiomyopathy). The skin abnormalities lead to a severe loss of fluids and death in early infancy. Like the mutations that cause ...
- ... the neonatal type. Males with the infantile or neonatal type frequently have ... a common cause of death in males with severe HSD10 disease. Many affected ...
- ... main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.The lethal neonatal form of CPT II deficiency becomes apparent soon ...
- ... researchers have split the condition into three types: neonatal, late-infantile, and juvenile.The neonatal type is the most severe form, with signs ... abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be ...
- ... symptoms of the condition. PNPO deficiency PNPO-related neonatal epileptic encephalopathy PNPOD Pyridoxal 5′-phosphate-dependent epilepsy ... A, Bartmann P, Franz AR. Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed. ...
- ... PubMed Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Semin Fetal Neonatal Med. 2011 Jun;16(3):164-72. doi: ...
- ... the CAV1 gene have been found to cause neonatal-onset generalized lipodystrophy syndrome. The signs and symptoms ... novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. ...
- ... Wanders RJ, Marquardt I, Korenke GC, Das AM. Neonatal screening for defects of the mitochondrial trifunctional protein. ... oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their ...
