Found: 25
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Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
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- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- 2014
- By:
- Publication type:
- journal article
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 31, doi. 10.1186/1750-1172-7-31
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- Publication type:
- Article
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
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- Publication type:
- Article
Un «professore [...] troppo politico»: vicende del cantore pontificio Giuseppe Santarelli.
- Published in:
- Recercare, 2023, v. 35, n. 1/2, p. 217
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- Publication type:
- Article
«Respinto da un impensato vento contrario in alto mare»: Anton Raaff, il Farinelli e la Storia della musica di Giambattista Martini.
- Published in:
- Recercare, 2017, v. 29, n. 1/2, p. 181
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- Publication type:
- Article
Genetic Contributions to the Development of Complications in Preterm Newborns.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131741
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- Publication type:
- Article
Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
- Published in:
- Journal of Mass Spectrometry, 2006, v. 41, n. 2, p. 263, doi. 10.1002/jms.964
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- Publication type:
- Article
Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
- Published in:
- 2017
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- Publication type:
- journal article
Vein of Galen aneurysmal malformation and galactosemia in a neonate: a previously unreported association.
- Published in:
- 2007
- By:
- Publication type:
- Letter
The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2009, v. 23, n. 23, p. 3891, doi. 10.1002/rcm.4289
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- Publication type:
- Article
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2008, v. 22, n. 6, p. 812, doi. 10.1002/rcm.3428
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- Publication type:
- Article
Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2005, v. 19, n. 6, p. 863, doi. 10.1002/rcm.1861
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- Publication type:
- Article
Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 23, p. 2688, doi. 10.1002/rcm.1248
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- Publication type:
- Article
Correction to: Newborn screening in mucopolysaccharidoses.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Newborn screening in mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0552-3
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- Publication type:
- Article
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
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- Publication type:
- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
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- Publication type:
- Article
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1007, doi. 10.1007/s10545-015-9830-z
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- Publication type:
- Article
Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
- Published in:
- 2006
- By:
- Publication type:
- Report
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?
- Published in:
- 2008
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- Publication type:
- Report
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 8, p. e776, doi. 10.1111/aos.13441
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- Publication type:
- Article
Electromyographic Alterations in Hyperphenylalaninemia due to Dihydropteridine Reductase Deficiency.
- Published in:
- Journal of Child Neurology, 1997, v. 12, n. 2, p. 137
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- Publication type:
- Article
First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 12, p. 1117, doi. 10.1002/pd.1291
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- Publication type:
- Article
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies.
- Published in:
- Scientific World Journal, 2013, p. 1, doi. 10.1155/2013/625824
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- Publication type:
- Article