The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0157-4
Abstract: Neonatal onset hyperammonemia in patients with urea cycle disorders (UCDs) is still associated with high morbidity and mortality. Current protocols consistently recommend emergency medical and dietary management. In case of increasing or persistent hyperammonemia, with… read more here.
Keywords: neonatal onset; cycle disorders; urea cycle; ammonia levels ... See more keywords
Neonatal-onset Congenital Ectropion Uveae: a distinct phenotype of Newborn glaucoma.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.10.001
Abstract: PURPOSE To describe "neonatal-onset congenital ectropion uveae (N-CEU)" as a distinct clinical entity of newborn glaucoma (NG), and study its significance towards the severity and outcome of NG. DESIGN Prospective clinical cohort study METHODS: Setting:… read more here.
Keywords: onset; neonatal onset; glaucoma; congenital ectropion ... See more keywords
Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2020.105734
Abstract: OBJECTIVES Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder… read more here.
Keywords: collagen related; motor development; neonatal onset; onset manifestations ... See more keywords
Circumferential-Suture-Viscotrabeculotomy Versus Rigid Probe Viscotrabeculotomy in Neonatal-onset Primary Congenital Glaucoma.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of glaucoma"
DOI: 10.1097/ijg.0000000000002218
Abstract: PURPOSE To compare the surgical outcomes of viscocircumferential-suture-trabeculotomy(VCST) to rigid probe double-entry viscotrabeculotomy(DEVT) and rigid probe single-entry viscotrabeculotomy (SEVT) in infants with neonatal onset primary congenital glaucoma(PCG). DESIGN Retrospective chart review. PATIENTS AND METHODS Retrospective… read more here.
Keywords: viscotrabeculotomy; glaucoma; neonatal onset; rigid probe ... See more keywords
Clinical profile and outcome of early surgery in neonatal-onset glaucoma presenting over a 5-year period
Sign Up to like & getrecommendations! Published in 2020 at "British Journal of Ophthalmology"
DOI: 10.1136/bjophthalmol-2020-317230
Abstract: Background Neonatal-onset glaucoma (NOG) is a severe form of childhood glaucoma and is not always due to primary congenital glaucoma (PCG). Due to advances in neonatal care, the incidence of NOG is rising, but it… read more here.
Keywords: surgery; neonatal onset; year; glaucoma ... See more keywords
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Sign Up to like & getrecommendations! Published in 2020 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202010_23220
Abstract: OBJECTIVE Long-term survival of patients with neonatal-onset carbamoyl-phosphate synthetase 1 deficiency (CPS1D), an autosomal recessive disorder characterized by repeated, life-threatening hyperammonemia, is rare. We describe the diagnosis and clinical management of a teenager with neonatal-onset… read more here.
Keywords: neonatal onset; carbamoyl phosphate; phosphate synthetase; long term ... See more keywords
Clinical Characteristics, In Silico Analysis, and Intervention of Neonatal-Onset Inflammatory Bowel Disease With Combined Immunodeficiency Caused by Novel TTC7A Variants
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.921808
Abstract: We aimed to explore the genotypic and phenotypic characteristics of neonatal-onset inflammatory bowel disease (IBD) with combined immunodeficiency due to TTC7A mutation. We examined the clinical manifestations, imaging results, endoscopic and histological findings, interventions, and… read more here.
Keywords: combined immunodeficiency; neonatal onset; onset inflammatory; analysis ... See more keywords
Neonatal Onset Glaucoma in a Case with Gorlin–Goltz Syndrome: An Unusual Association
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Current Glaucoma Practice"
DOI: 10.5005/jp-journals-10078-1308
Abstract: Abstract Aim and objective To report a unique presentation of Gorlin–Goltz syndrome (GGS) with congenital glaucoma. Materials and methods We report a case of a 3-month-old female patient with bilateral uncontrolled intraocular pressures (IOP), who… read more here.
Keywords: neonatal onset; goltz syndrome; glaucoma; onset glaucoma ... See more keywords