FERNANDO SCAGLIA to Adult
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Adult.
Connection Strength
0.564
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Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency. Am J Med Genet A. 2025 Jun; 197(6):e64014.
Score: 0.053
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Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Mol Genet Metab. 2024 Aug; 142(4):108513.
Score: 0.051
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Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
Score: 0.041
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Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787.
Score: 0.039
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Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab. 2016 07; 118(3):178-184.
Score: 0.029
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Adult liver disorders caused by inborn errors of metabolism: review and update. Mol Genet Metab. 2015 Jan; 114(1):1-10.
Score: 0.026
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Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14.
Score: 0.021
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New insights in nutritional management and amino acid supplementation in urea cycle disorders. Mol Genet Metab. 2010; 100 Suppl 1:S72-6.
Score: 0.019
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The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev. 2010; 16(2):136-43.
Score: 0.019
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GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug; 94(4):391-396.
Score: 0.017
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Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52.
Score: 0.015
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Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol. 2005 Aug; 26(7):1675-80.
Score: 0.014
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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. Mol Genet Metab. 2025 May; 145(1):109087.
Score: 0.013
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Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025 Feb 25; 104(4):e209779.
Score: 0.013
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet J Rare Dis. 2024 Nov 21; 19(1):431.
Score: 0.013
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Aug; 142(4):108509.
Score: 0.013
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Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr; 81 Suppl 1:S79-85.
Score: 0.013
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Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers. Am J Clin Nutr. 2003 Oct; 78(4):749-55.
Score: 0.012
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Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation. Hypertension. 2021 11; 78(5):1398-1410.
Score: 0.010
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Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431.
Score: 0.010
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Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64.
Score: 0.009
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Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. Neurology. 2020 02 18; 94(7):e687-e698.
Score: 0.009
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
Score: 0.009
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 06; 5(3).
Score: 0.009
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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders. Genet Med. 2019 09; 21(9):1977-1986.
Score: 0.009
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.008
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.008
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Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014 Sep; 18:63-9.
Score: 0.006
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Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May; 37(3):461-73.
Score: 0.006
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Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25.
Score: 0.006
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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
Score: 0.006
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Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61.
Score: 0.006
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Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93.
Score: 0.006
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Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients. Am J Clin Nutr. 2011 Jun; 93(6):1248-54.
Score: 0.005
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Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug; 31(8):E1632-51.
Score: 0.005
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Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010 Jan; 12(1):19-24.
Score: 0.005
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
Score: 0.004
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Pregnancy in a woman with Turner syndrome and celiac disease. J Endocrinol Invest. 2007 Jul-Aug; 30(7):598-600.
Score: 0.004
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Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol. 2005 Apr; 57(4):557-60.
Score: 0.003