Related references
Note: Only part of the references are listed.Biotinidase activity is affected by both seasonal temperature and filter collection cards
Matthew P. A. Henderson et al.
CLINICAL BIOCHEMISTRY (2023)
Recovery of enzyme activity in biotinidase deficient individuals during early childhood
Patrick Forny et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2022)
Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
Mujgan Ercan et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2021)
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
Ilaria Cicalini et al.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy
Alice Maguolo et al.
FRONTIERS IN PEDIATRICS (2021)
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil
Nara de Oliveira Carvalho et al.
JOURNAL OF MEDICAL SCREENING (2020)
High frequency of biotinidase deficiency in Italian population identified by newborn screening
Silvia Funghini et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2020)
Biotin in metabolism, gene expression, and human disease
Alfonso Leon-Del-Rio
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil
Nara O. Carvalho et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Single center experience of biotinidase deficiency: 259 patients and six novel mutations
Ebru Canda et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2018)
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics
Erin T Strovel et al.
GENETICS IN MEDICINE (2017)
Neonatal screening for biotinidase deficiency: A 30-year single center experience
Francesco Porta et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2017)
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations
Rachel C. Wiltink et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
COMPARISON OF SPECTROPHOTOMETRIC AND FLUORIMETRIC METHODS IN EVALUATION OF BIOTINIDASE DEFICIENCY
Sevgin Ozlem Iseri-Erten et al.
JOURNAL OF MEDICAL BIOCHEMISTRY (2016)
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)
Srinitya Gannavarapu et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Why screen newborns for profound and partial biotinidase deficiency?
Barry Wolf
MOLECULAR GENETICS AND METABOLISM (2015)
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss
Barry Wolf
MOLECULAR GENETICS AND METABOLISM (2015)
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years
Allison M. Jay et al.
GENETICS IN MEDICINE (2015)
Biotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to have
Barry Wolf
GENETICS IN MEDICINE (2012)
Analysis of Mutations Causing Biotinidase Deficiency
Kirit Pindolia et al.
HUMAN MUTATION (2010)
Clinical issues and frequent questions about biotinidase deficiency
Barry Wolf
MOLECULAR GENETICS AND METABOLISM (2010)
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases
T Baykal et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
The magnitude and challenge of false-positive newborn screening test results
C Kwon et al.
ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2000)
Share Paper
