Biotinidase Deficiency: New Directions and Practical Concerns (Q28177338)

Crossref

https://api.crossref.org/works/10.1007%2FS11940-003-0038-4

Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online

21 January 2018

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12 December 2020

Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency

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12 December 2020

Structure of the human biotinidase gene

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12 December 2020

Worldwide survey of neonatal screening for biotinidase deficiency

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12 December 2020

Detection of biocytin in urine of children with congenital biotinidase deficiency

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12 December 2020

The biotin-dependent enzymes

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12 December 2020

Human serum biotinidase is a thiol-type enzyme

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12 December 2020

Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency

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12 December 2020

A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency

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12 December 2020

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

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12 December 2020

Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

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12 December 2020

Biotinidase deficiency: initial clinical features and rapid diagnosis.

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12 December 2020

The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals

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12 December 2020

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

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12 December 2020

Mutations in BTD causing biotinidase deficiency

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12 December 2020

Delayed-onset profound biotinidase deficiency

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12 December 2020

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

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12 December 2020

The biotin-dependent carboxylase deficiencies

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12 December 2020

Basal ganglia calcifications in a case of biotinidase deficiency

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12 December 2020

Partial biotinidase deficiency: clinical and biochemical features

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12 December 2020

Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).

1 reference

12 December 2020

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

1 reference

12 December 2020

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

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12 December 2020

A screening method for biotinidase deficiency in newborns

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12 December 2020

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

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12 December 2020

Isolation of a biotin receptor from hepatic plasma membranes

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12 December 2020

Profound biotinidase deficiency in two asymptomatic adults

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12 December 2020

Biotinidase deficiency and the eye and ear

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12 December 2020

Studies of the reversible binding of biotin to human plasma

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12 December 2020

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12 December 2020

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis

1 reference

12 December 2020

The enzymatic degradation of soluble bound biotin.

1 reference

12 December 2020

Human serum biotinidase. cDNA cloning, sequence, and characterization

1 reference

12 December 2020

Biotinylation of biotinidase following incubation with biocytin

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12 December 2020

Phenotypic variation in biotinidase deficiency

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12 December 2020

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

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12 December 2020

Deficient liver biotinidase activity in multiple carboxylase deficiency

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12 December 2020

Reversal of brain atrophy with biotin treatment in biotinidase deficiency

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12 December 2020