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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

Pediatric research, 1999-07, Vol.46 (1), p.20-27

1999

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Delayed-onset profound biotinidase deficiency

The Journal of pediatrics, 1998-02, Vol.132 (2), p.362-365

1998

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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

Human mutation, 1998, Vol.11 (5), p.410-410

1998

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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

Human genetics, 1997-04, Vol.99 (4), p.506-512

1997

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Examination of the Signal Peptide Region of Human Biotinidase Using a Baculovirus Expression System

Molecular genetics and metabolism, 2000-01, Vol.69 (1), p.56-63

2000

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Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations

Human heredity, 2000-03, Vol.50 (2), p.102-111

2000

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Delayed-onset profound biotnidase deficiency

1998

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Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

Human mutation, 1998, Vol.11 (5), p.410-410

1998

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Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States

Biochemical and molecular medicine, 1997-06, Vol.61 (1), p.22-27

1997

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Improved spatial resolution microanalysis in a scanning transmission electron microscope

X-ray spectrometry, 1977-04, Vol.6 (2), p.73-79

1977

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Profound biotinidase deficiency in two asymptomatic adults

American journal of medical genetics, 1997-11, Vol.73 (1), p.5-9

1997

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X-Ray Microanalytical Sensitivity and Spatial Resolution in Scanning Transmission Electron Microscopes

X-ray spectrometry, 1978-10, Vol.7 (4), p.184-189

1978

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Determination of organic sulphur in raw and chemically cleaned coals by scanning electron microscopy and energy dispersive X-ray spectrometry

Fuel (Guildford), 1983-01, Vol.62 (9), p.1076-1078

1983

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Grating magneto-optical traps with complicated level structures

New journal of physics, 2023-10, Vol.25 (10), p.103046

2023

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Electromagnetically induced transparency based Rydberg-atom sensor for traceable voltage measurements

AVS quantum science, 2022-09, Vol.4 (3)

2022

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Radiative decay rate and branching fractions of MgF

Physical review. A, 2023-09, Vol.108 (3), Article 032809

2023

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Hyperfine structure of the B 3 Π 1 state and predictions of optical cycling behavior in the X → B transition of TlF

Physical review. A, 2017-06, Vol.95 (6), Article 062506

2017

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Rydberg Atom-Based AC/DC Voltage Measurements

2021 Conference on Lasers and Electro-Optics (CLEO), 2021, p.1-2

2021

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Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients

Neurology, 1993-12, Vol.43 (12), p.2652

1993

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Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms

British journal of surgery, 1989-06, Vol.76 (6), p.589-591

1989

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Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms

The Journal of clinical investigation, 1993-06, Vol.91 (6), p.2539-2545

1993

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Calcification of the intervertebral discs and curvature of the radius and ulna: a radiographic survey of Finnish miniature dachshunds

Acta veterinaria scandinavica, 2001-01, Vol.42 (2), p.229-236, Article 229

2001

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Familial occurrence of abdominal aortic aneurysms

Surgery, 1984-06, Vol.95 (6), p.650-656

1984

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Intracranial Aneurysms and Heredity

Neurosurgery, 1987-02, Vol.20 (2), p.236-239

1987

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High concentrations of Lp(a) lipoprotein in serum are common among patients with abdominal aortic aneurysms

International angiology, 1988-01, Vol.7 (1), p.46

1988

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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

Delayed-onset profound biotinidase deficiency

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

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

Examination of the Signal Peptide Region of Human Biotinidase Using a Baculovirus Expression System

Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations

Delayed-onset profound biotnidase deficiency

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States

Improved spatial resolution microanalysis in a scanning transmission electron microscope

Profound biotinidase deficiency in two asymptomatic adults

X-Ray Microanalytical Sensitivity and Spatial Resolution in Scanning Transmission Electron Microscopes

Determination of organic sulphur in raw and chemically cleaned coals by scanning electron microscopy and energy dispersive X-ray spectrometry

Grating magneto-optical traps with complicated level structures

Electromagnetically induced transparency based Rydberg-atom sensor for traceable voltage measurements

Radiative decay rate and branching fractions of MgF

Hyperfine structure of the B 3 Π 1 state and predictions of optical cycling behavior in the X → B transition of TlF

Rydberg Atom-Based AC/DC Voltage Measurements

Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients

Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms

Calcification of the intervertebral discs and curvature of the radius and ulna: a radiographic survey of Finnish miniature dachshunds

Familial occurrence of abdominal aortic aneurysms

Intracranial Aneurysms and Heredity

High concentrations of Lp(a) lipoprotein in serum are common among patients with abdominal aortic aneurysms

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