Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.
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[1] B. Wolf. Why screen newborns for profound and partial biotinidase deficiency? , 2015, Molecular genetics and metabolism.
[2] S. Jabbehdari,et al. Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series) , 2013, Iranian journal of child neurology.
[3] Y. L. Loukas,et al. High incidence of partial biotinidase deficiency cases in newborns of Greek origin. , 2013, Gene.
[4] S. Kapoor,et al. National newborn screening program — Still a hype or a hope now? , 2013, Indian Pediatrics.
[5] D. Crockett,et al. The Biotinidase Gene Variants Registry: A Paradigm Public Database , 2013, G3: Genes, Genomes, Genetics.
[6] B. Wolf. Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have” , 2012, Genetics in Medicine.
[7] T. Cowan,et al. Technical standards and guidelines for the diagnosis of biotinidase deficiency , 2010, Genetics in Medicine.
[8] B. Wolf. Clinical issues and frequent questions about biotinidase deficiency. , 2010, Molecular genetics and metabolism.
[9] Xuefan Gu,et al. Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency , 2009, Journal of Inherited Metabolic Disease.
[10] M. Rathi,et al. Biotinidase deficiency with hypertonia as unusual feature. , 2009, Indian pediatrics.
[11] T. Coşkun,et al. Audiologic findings in children with biotinidase deficiency in Turkey. , 2007, International journal of pediatric otorhinolaryngology.
[12] B. Wolf. Worldwide survey of neonatal screening for biotinidase deficiency , 1991, Journal of Inherited Metabolic Disease.
[13] A. R. R. Devi,et al. Newborn screening in India , 2004, Indian journal of pediatrics.
[14] S. Weremowicz,et al. Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. , 1994, Genomics.
[15] B. Wolf,et al. Biotinidase Deficiency a , 1985, Advances in pediatrics.
[16] E. Shapira. Biochemical genetics : a laboratory manual , 1989 .
[17] H. Wood,et al. Purification of biotinidase from human plasma and its activity on biotinyl peptides. , 1985, Biochemistry.
[18] B. Wolf,et al. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. , 1983, Clinica chimica acta; international journal of clinical chemistry.