Works matching IS 01418955 AND DT 2007 AND VI 30 AND IP 4

Results: 33

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.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 611, doi. 10.1007/s10545-007-0670-3

By:

Al-Dirbashi, O.;
Abu-Amero, K.;
Alswaid, A.;
Hoffmann, G.;
Al-Qahtani, K.;
Rashed, M.

Publication type:

Article

Newborn screening: Experiences in the Middle East and North Africa.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 482, doi. 10.1007/s10545-007-0660-5

By:

Saadallah, A.;
Rashed, M.

Publication type:

Article

Quality performance of newborn screening systems: Strategies for improvement.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 576, doi. 10.1007/s10545-007-0639-2

By:

Webster, D.

Publication type:

Article

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

By:

Borrajo, G.

Publication type:

Article

Congenital adrenal hyperplasia: Diagnostic advances.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 563, doi. 10.1007/s10545-007-0696-6

By:

Torresani, T.;
Biason-Lauber, Anna

Publication type:

Article

Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 614, doi. 10.1007/s10545-007-0679-7

By:

Lukacs, Z.;
Hartung, R.;
Beck, M.;
Keil, A.;
Mengel, E.

Publication type:

Article

Structures for clinical follow-up: Newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 600, doi. 10.1007/s10545-007-0674-z

By:

Howell, R.;
Engelson, Gilian

Publication type:

Article

Newborn screening: A national public health programme in Brazil.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 615, doi. 10.1007/s10545-007-0650-7

By:

Marini de Carvalho, T.;
Pimentel dos Santos, H.;
Santos, I.;
Vargas, P.;
Pedrosa, J.

Publication type:

Article

Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 610, doi. 10.1007/s10545-007-0608-9

By:

Weigel, J.;
Janzen, N.;
Pfäffle, R.;
Thiery, J.;
Kiess, W.;
Ceglarek, U.

Publication type:

Article

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 556, doi. 10.1007/s10545-007-0651-6

By:

Gramer, G.;
Burgard, P.;
Garbade, S.;
Lindner, M.

Publication type:

Article

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year report.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 507, doi. 10.1007/s10545-007-0543-9

By:

Han, L.;
Ye, J.;
Qiu, W.;
Gao, X.;
Wang, Y.;
Gu, X.

Publication type:

Article

First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spots.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 609, doi. 10.1007/s10545-007-0622-y

By:

Elvers, L.;
Loeber, J.;
Dhondt, J.-L.;
Fukushi, M.;
Hannon, W.;
Torresani, T.;
Webster, D.

Publication type:

Article

Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 515, doi. 10.1007/s10545-007-0607-x

By:

Auray-Blais, C.;
Cyr, D.;
Drouin, R.

Publication type:

Article

Focus on neonatal screening.

Published in:

2007

By:

Hoffmann, G.;
Pollitt, R.;
Torresani, T.;
Yamaguchi, S.

Publication type:

Editorial

Scene from the USA: The illogic of mandating screening without also providing for treatment.

Published in:

2007

By:

Buist, Neil;
Huntington, Kathleen

Publication type:

Editorial

Expanded newborn screening in Europe 2007.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 439, doi. 10.1007/s10545-007-0666-z

By:

Bodamer, O.;
Hoffmann, G.;
Lindner, M.

Publication type:

Article

Newborn screening in the Asia Pacific region.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 490, doi. 10.1007/s10545-007-0687-7

By:

Padilla, Carmencita;
Therrell, Bradford

Publication type:

Article

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

By:

Therrell, Bradford;
Adams, John

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).

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 585, doi. 10.1007/s10545-007-0691-y

By:

Matern, D.;
Tortorelli, S.;
Oglesbee, D.;
Gavrilov, D.;
Rinaldo, P.

Publication type:

Article

Training programmes for developing countries.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 596, doi. 10.1007/s10545-007-0680-1

By:

Solanki, K.

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

By:

Kobayashi, H.;
Hasegawa, Y.;
Endo, M.;
Purevsuren, J.;
Yamaguchi, S.

Publication type:

Article

Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in Japan.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 608, doi. 10.1007/s10545-007-0602-2

By:

Aoki, K.;
Ohwada, M.;
Kitagawa, T.

Publication type:

Article

Storage policies and use of the Danish Newborn Screening Biobank.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 530, doi. 10.1007/s10545-007-0631-x

By:

Nørgaard-Pedersen, B.;
Hougaard, D.

Publication type:

Article

Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 612, doi. 10.1007/s10545-007-0635-6

By:

Al-Dirbashi, O.;
Rashed, M.;
Al-Qahtani, K;
Al-Mokhadab, M.;
Kurdi, W.;
Al-Sayed, M.

Publication type:

Article

Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 613, doi. 10.1007/s10545-007-0633-8

By:

Roussey, M.;
Bihannic, A.;
Scotet, V.;
Audrezet, M.;
Blayau, M.;
Dagorne, M.;
David, V.;
Deneuville, E.;
Giniès, J.;
Laurans, M.;
Moisan-Petit, V.;
Rault, G.;
Vigneron, P.;
Férec, C.

Publication type:

Article

An international training and support programme for the establishment of neonatal screening in developing countries.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 593, doi. 10.1007/s10545-007-0634-7

By:

Fukushi, M.

Publication type:

Article

Introducing new screens: Why are we all doing different things?

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 423, doi. 10.1007/s10545-007-0647-2

By:

Pollitt, R.

Publication type:

Article

Neonatal screening in Europe; the situation in 2004.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 430, doi. 10.1007/s10545-007-0644-5

By:

Loeber, J.

Publication type:

Article

Cystic fibrosis: Benefits and clinical outcome.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 544, doi. 10.1007/s10545-007-0620-0

By:

McKay, K.

Publication type:

Article

Population quantile-quantile plots for monitoring assay performance in newborn screening.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 607, doi. 10.1007/s10545-007-0573-3

By:

Pollitt, R.;
Matthews, A.

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.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 522, doi. 10.1007/s10545-007-0553-7

By:

Lindner, M.;
Abdoh, G.;
Fang-Hoffmann, J.;
Shabeck, N.;
Sayrafi, M.;
Janahi, M.;
Ho, S.;
Abdelrahman, M.;
Ben-Omran, T.;
Bener, A.;
Schulze, A.;
Rifai, H.;
Thani, G.;
Hoffmann, G.

Publication type:

Article

Newborn screening for cystic fibrosis: Techniques and strategies.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 537, doi. 10.1007/s10545-007-0584-0

By:

Wilcken, Bridget

Publication type:

Article

Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’.

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 4, p. 418, doi. 10.1007/s10545-007-0624-9

By:

Dhondt, Jean-Louis

Publication type:

Article