Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy

Outcome of children with hereditary tyrosinaemia following newborn screening

(2015) P J McKiernan et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function

(2014) David C. Bartlett et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs

(2014) Víctor R. De Jesús et al.   MOLECULAR GENETICS AND METABOLISM

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning

(2014) Bradford L. Therrell et al.   MOLECULAR GENETICS AND METABOLISM

QUADAS-2: A Revised Tool for the Quality Assessment of Diagnostic Accuracy Studies

(2013) Penny F. Whiting   ANNALS OF INTERNAL MEDICINE

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: A four-year summary by the New England newborn screening program

(2013) Thomas H. Zytkovicz et al.   CLINICAL BIOCHEMISTRY

Recommendations for the management of tyrosinaemia type 1

(2013) Corinne de Laet et al.   Orphanet Journal of Rare Diseases

Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine

(2012) Thomas F. Metz et al.   CLINICA CHIMICA ACTA

Performance of succinylacetone assays and their associated proficiency testing outcomes

(2012) B.W. Adam et al.   CLINICAL BIOCHEMISTRY

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

(2012) Allan Meldgaard Lund et al.   MOLECULAR GENETICS AND METABOLISM

Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec

(2012) Jean Larochelle et al.   MOLECULAR GENETICS AND METABOLISM

Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction process

(2011) Kuldeep S. Dhillon et al.   CLINICA CHIMICA ACTA

Newborn screening for Tyr-I: Two years' experience of the New York State program

(2011) M.A. Morrissey et al.   MOLECULAR GENETICS AND METABOLISM

Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

(2009) B. W. Adam et al.   CLINICAL CHEMISTRY

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

(2009) B. Wilcken et al.   PEDIATRICS

Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots

(2008) C. Turgeon et al.   CLINICAL CHEMISTRY

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs

(2008) Giancarlo la Marca et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY