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Results 1 - 10 of 67 for Neonatal onset
  1. Anakinra 
    ... drugs (DMARDs). Anakinra is also used to treat neonatal-onset multisystem inflammatory disease (NOMID; a disorder that causes ... day. However, when anakinra is given to treat neonatal-onset multisystem inflammatory disease, it may be given once ...
    https://medlineplus.gov/druginfo/meds/a602001.html - Drugs and Supplements
  2. Ornithine transcarbamylase deficiency 
    ... in the first few days of life. This neonatal-onset form of the disorder usually affects males; it ... very rare in females. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking ...
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency - Genetics
  3. CAV1 gene 
    ... the CAV1 gene have been found to cause neonatal-onset generalized lipodystrophy syndrome. The signs and symptoms of ... novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 ...
    https://medlineplus.gov/genetics/gene/cav1 - Genetics
  4. Citrullinemia 
    ... NICCD). This liver condition is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of ... DEFICIENCY, ADOLESCENT OR ADULT ONSET; CDAA CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI PubMed Faghfoury H, Baruteau J, de Baulny ...
    https://medlineplus.gov/genetics/condition/citrullinemia - Genetics
  5. SLC25A13 gene 
    ... NICCD). This liver disorder is also known as neonatal-onset type II citrullinemia. NICCD blocks the flow of ... FAMILY 25 (CITRIN), MEMBER 13; SLC25A13 CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET; CDNI NCBI Gene ClinVar Kobayashi K, Bang Lu ...
    https://medlineplus.gov/genetics/gene/slc25a13 - Genetics
  6. MECP2-related severe neonatal encephalopathy 
    ... due to MECP2 mutations Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly National Organization for Rare Disorders (NORD) ClinicalTrials.gov ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PubMed Bianciardi L, ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  7. CPS1 gene 
    ... synthetase 1 and novel mutations in patients with neonatal onset. Hum Mutat. 2003 Apr;21(4):444. doi: 10.1002/humu.9118. Citation on PubMed Pearson DL, Dawling S, Walsh ... pulmonary hypertension--urea-cycle intermediates, nitric oxide production, ...
    https://medlineplus.gov/genetics/gene/cps1 - Genetics
  8. 2-hydroxyglutaric aciduria 
    ... D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  9. NLRP3 gene 
    ... type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). These conditions were once ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  10. Carbamoyl phosphate synthetase I deficiency 
    ... synthetase 1 and novel mutations in patients with neonatal onset. Hum Mutat. 2003 Apr;21(4):444. doi: ...
    https://medlineplus.gov/...rbamoyl-phosphate-synthetase-i-deficiency - Genetics
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