Found: 31
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Ophthalmologic Findings in Biotinidase Deficiency.
- Published in:
- Ophthalmologica, 1993, v. 206, n. 4, p. 177, doi. 10.1159/000310387
- By:
- Publication type:
- Article
Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype.
- Published in:
- 2002
- By:
- Publication type:
- commentary
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Any individual with multiple sclerosis who markedly improves neurologically with high-doses of biotin should be evaluated for biotinidase deficiency.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Encouraging Lay Counselors.
- Published in:
- 1972
- By:
- Publication type:
- Letter
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Growth of Leuconostoc mesenteroides NRRL-B523 in an alkaline medium: Suboptimal pH growth inhibition of a lactic acid bacterium.
- Published in:
- Biotechnology & Bioengineering, 2005, v. 89, n. 1, p. 96, doi. 10.1002/bit.20315
- By:
- Publication type:
- Article
Alteration of the growth rate and lag time of Leuconostoc mesenteroides NRRL-B523.
- Published in:
- Biotechnology & Bioengineering, 2001, v. 72, n. 6, p. 603, doi. 10.1002/1097-0290(20010320)72:6<603::AID-BIT1025>3.0.CO;2-4
- By:
- Publication type:
- Article
Biotinidase deficiency masquerading as multiple sclerosis?
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.
- Published in:
- Multiple Sclerosis Journal, 2015, v. 21, n. 12, p. 1604, doi. 10.1177/1352458515596457
- By:
- Publication type:
- Article
Propagation of Love waves in layers with irregular boundaries.
- Published in:
- Pure & Applied Geophysics, 1970, v. 78, n. 1, p. 48, doi. 10.1007/BF00874772
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- Publication type:
- Article
Propagation of Love waves in surface layers of varying thickness.
- Published in:
- Pure & Applied Geophysics, 1967, v. 67, n. 1, p. 76, doi. 10.1007/BF00880564
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- Publication type:
- Article
Fatty liver and kidney syndrome in chickens as an animal model for Reye's syndrome.
- Published in:
- 1983
- By:
- Publication type:
- journal article
Clinical utility gene card for: Biotinidase deficiency.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2012.28
- By:
- Publication type:
- Article
Biotin Uptake and Efflux in Cultured Rat Hepatocytes: Implications for the Treatment of Biotinidase Deficiency.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 447, n. 1, p. 435, doi. 10.1111/j.1749-6632.1985.tb18471.x
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- Publication type:
- Article
Biotinidase-A Possible Mechanism for the Recycling of Biotin.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 447, n. 1, p. 400, doi. 10.1111/j.1749-6632.1985.tb18458.x
- By:
- Publication type:
- Article
Fatty Acids in Biotin Deficiency.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 447, n. 1, p. 429, doi. 10.1111/j.1749-6632.1985.tb18468.x
- By:
- Publication type:
- Article
Biotinidase Deficiency<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 447, n. 1, p. 252, doi. 10.1111/j.1749-6632.1985.tb18443.x
- By:
- Publication type:
- Article
Developmental window of sensorineural deafness in biotinidase-deficient mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 5, p. 733, doi. 10.1007/s10545-017-0049-z
- By:
- Publication type:
- Article
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.516799
- By:
- Publication type:
- Article
SEQUENCING IN AN ASSEMBLY LINE WITH BLOCKING TO MINIMIZE CYCLE TIME.
- Published in:
- Operations Research, 1989, v. 37, n. 6, p. 925, doi. 10.1287/opre.37.6.925
- By:
- Publication type:
- Article
Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 9, p. 1043, doi. 10.1177/0883073808318062
- By:
- Publication type:
- Article
Analysis of mutations causing biotinidase deficiency.
- Published in:
- 2010
- By:
- Publication type:
- Other
Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329
- By:
- Publication type:
- Article
Biotinidase deficiency: Initial clinical features and rapid diagnosis.
- Published in:
- Annals of Neurology, 1985, v. 18, n. 5, p. 614, doi. 10.1002/ana.410180517
- By:
- Publication type:
- Article
Mutations in BTD causing biotinidase deficiency.
- Published in:
- Human Mutation, 2001, v. 18, n. 5, p. 375, doi. 10.1002/humu.1208
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- Publication type:
- Article
Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 410, doi. 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8
- By:
- Publication type:
- Article
Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations.
- Published in:
- Human Heredity, 2000, v. 50, n. 2, p. 102, doi. 10.1159/000022897
- By:
- Publication type:
- Article
Profound Biotinidase Deficiency Caused by a Point Mutation That Creates a Downstream Cryptic 3′ Splice Acceptor Site Within an Exon of the Human Biotinidase Gene.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 739, doi. 10.1093/hmg/6.5.739
- By:
- Publication type:
- Article
Deletion/Insertion Mutation That Causes Biotinidase Deficiency May Result from the Formation of a Quasipalindromic Structure.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1657, doi. 10.1093/hmg/5.10.1657
- By:
- Publication type:
- Article
Glycinelserine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia.
- Published in:
- Clinical Genetics, 1983, v. 23, n. 5, p. 354, doi. 10.1111/j.1399-0004.1983.tb00445.x
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- Publication type:
- Article