Works matching IS 01418955 AND DT 2007 AND VI 30 AND IP 4
Results: 33
Newborn screening in Latin America at the beginning of the 21st century.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 466, doi. 10.1007/s10545-007-0669-9
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- Publication type:
- Article
Quality performance of newborn screening systems: Strategies for improvement.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 576, doi. 10.1007/s10545-007-0639-2
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- Publication type:
- Article
Congenital adrenal hyperplasia: Diagnostic advances.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 563, doi. 10.1007/s10545-007-0696-6
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- Publication type:
- Article
Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 614, doi. 10.1007/s10545-007-0679-7
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- Publication type:
- Article
Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 515, doi. 10.1007/s10545-007-0607-x
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- Publication type:
- Article
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 611, doi. 10.1007/s10545-007-0670-3
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- Publication type:
- Article
Newborn screening: Experiences in the Middle East and North Africa.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 482, doi. 10.1007/s10545-007-0660-5
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- Publication type:
- Article
Focus on neonatal screening.
- Published in:
- 2007
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- Publication type:
- Editorial
Structures for clinical follow-up: Newborn screening.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 600, doi. 10.1007/s10545-007-0674-z
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- Publication type:
- Article
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 556, doi. 10.1007/s10545-007-0651-6
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- Publication type:
- Article
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 507, doi. 10.1007/s10545-007-0543-9
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- Publication type:
- Article
First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spots.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 609, doi. 10.1007/s10545-007-0622-y
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- Publication type:
- Article
Newborn screening: A national public health programme in Brazil.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 615, doi. 10.1007/s10545-007-0650-7
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- Publication type:
- Article
Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 610, doi. 10.1007/s10545-007-0608-9
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- Publication type:
- Article
A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhood.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 606, doi. 10.1007/s10545-007-0642-7
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- Publication type:
- Article
Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 608, doi. 10.1007/s10545-007-0602-2
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- Publication type:
- Article
Scene from the USA: The illogic of mandating screening without also providing for treatment.
- Published in:
- 2007
- By:
- Publication type:
- Editorial
Newborn screening in North America.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 447, doi. 10.1007/s10545-007-0690-z
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- Publication type:
- Article
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007).
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 585, doi. 10.1007/s10545-007-0691-y
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- Publication type:
- Article
Training programmes for developing countries.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 596, doi. 10.1007/s10545-007-0680-1
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- Publication type:
- Article
Expanded newborn screening in Europe 2007.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 439, doi. 10.1007/s10545-007-0666-z
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- Publication type:
- Article
Newborn screening in the Asia Pacific region.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 490, doi. 10.1007/s10545-007-0687-7
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- Publication type:
- Article
Storage policies and use of the Danish Newborn Screening Biobank.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 530, doi. 10.1007/s10545-007-0631-x
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- Publication type:
- Article
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 612, doi. 10.1007/s10545-007-0635-6
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- Publication type:
- Article
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 613, doi. 10.1007/s10545-007-0633-8
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- Publication type:
- Article
An international training and support programme for the establishment of neonatal screening in developing countries.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 593, doi. 10.1007/s10545-007-0634-7
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- Publication type:
- Article
Introducing new screens: Why are we all doing different things?
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 423, doi. 10.1007/s10545-007-0647-2
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- Publication type:
- Article
Neonatal screening in Europe; the situation in 2004.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 430, doi. 10.1007/s10545-007-0644-5
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- Publication type:
- Article
Cystic fibrosis: Benefits and clinical outcome.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 544, doi. 10.1007/s10545-007-0620-0
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- Publication type:
- Article
Population quantile-quantile plots for monitoring assay performance in newborn screening.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 607, doi. 10.1007/s10545-007-0573-3
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- Publication type:
- Article
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 522, doi. 10.1007/s10545-007-0553-7
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- Publication type:
- Article
Newborn screening for cystic fibrosis: Techniques and strategies.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 537, doi. 10.1007/s10545-007-0584-0
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- Publication type:
- Article
Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 418, doi. 10.1007/s10545-007-0624-9
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- Publication type:
- Article