The 1‐13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes
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S. Ferdinandusse | C. Hollak | M. D. De Vries | M. Janssen | E. Kemper | J. Langendonk | F. Wijburg | D. van Harskamp | H. Schierbeek | A. Bosch | M. Rubio-Gozalbo | H. Huidekoper | M. M. Welsink-Karssies | Maaike C. Vries | Carla E.M. Hollak | M. M. Welsink‐Karssies | Mirian C. Janssen | A. Bosch | Dewi Harskamp | E. Marleen Kemper
[1] S. Waisbren,et al. The natural history of classic galactosemia: lessons from the GalNet registry , 2019, Orphanet Journal of Rare Diseases.
[2] R. Lachmann,et al. Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia , 2019, Journal of inherited metabolic disease.
[3] T. Yuzyuk,et al. Biochemical changes and clinical outcomes in 34 patients with classic galactosemia , 2018, Journal of Inherited Metabolic Disease.
[4] B. Kramer,et al. Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model , 2017, Anatomical record.
[5] T. Derks,et al. Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes. , 2017, Molecular Genetics and Metabolism.
[6] J. H. van der Lee,et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up , 2016, Journal of Inherited Metabolic Disease.
[7] M. Priebe,et al. 13C Protein Oxidation in Breath: Is It Relevant for the Whole Body Protein Status? , 2016 .
[8] K. Pfrimer,et al. Galactose oxidation using 13C in healthy and galactosemic children , 2015, Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas.
[9] Pauline M Rudd,et al. N-glycan abnormalities in children with galactosemia. , 2014, Journal of proteome research.
[10] L. Elsas,et al. Galactose toxicity in animals , 2009, IUBMB life.
[11] D. Lambert,et al. Outcomes of siblings with classical galactosemia. , 2009, The Journal of pediatrics.
[12] L. Elsas,et al. Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air , 2007, Pediatric Research.
[13] V. Slepak,et al. Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model. , 2007, Molecular genetics and metabolism.
[14] A. Bosch. Classical galactosaemia revisited , 2006, Journal of Inherited Metabolic Disease.
[15] L. Elsas,et al. Verbal Dyspraxia and Galactosemia , 2003, Pediatric Research.
[16] L. Elsas,et al. Galactose Breath Testing Distinguishes Variant and Severe Galactose-1-Phosphate Uridyltransferase Genotypes , 2000, Pediatric Research.
[17] T. Preston,et al. (13)C natural abundance in the British diet: implications for (13)C breath tests. , 2000, Rapid communications in mass spectrometry : RCM.
[18] L. Elsas,et al. In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. , 1995, Biochemical and molecular medicine.
[19] J. Holton,et al. The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia. , 1993, Clinica chimica acta; international journal of clinical chemistry.
[20] L. Elsas,et al. Practical Methods to Estimate Whole Body Leucine Oxidation in Maple Syrup Urine Disease , 1993, Pediatric Research.
[21] M. Kogut,et al. Hypergonadotropic hypogonadism in female patients with galactosemia. , 1981, The New England journal of medicine.
[22] G. Komrower,et al. Long-term Follow-up of Galactosaemia* , 1970, Archives of disease in childhood.
[23] D. Tibboel,et al. Validation of the Direct Nasopharyngeal Sampling Method for Collection of Expired Air in Preterm Neonates , 2004, Pediatric Research.
[24] L. Elsas,et al. A prevalent mutation for galactosemia among black Americans. , 1996, The Journal of pediatrics.