{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T19:07:09Z","timestamp":1777489629665,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"4-5","license":[{"start":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T00:00:00Z","timestamp":1144281600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Nutrition Food Res"],"published-print":{"date-parts":[[2006,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Since a few years ESI\u2010MS\/MS has been employed for the simultaneous detection of a wide range of inborn errors of metabolism. The screening center North at the Hamburg University Medical Center processes 40\u201350\u00a0000 samples<jats:italic> per<\/jats:italic> year. To assess current developments in neonatal screening, the Northern German Working Group on Neonatal Screening consisting of health care providers, metabolic centers, and screening laboratories was founded. Based on current literature and experience four categories of diseases were established. The first three categories were recommended for screening under constant scientific evaluation, while glutaric aciduria II, \u03b2\u2010ketothiolase deficiency, short\u2010chain acylCoA dehydrogenase deficiency, and homocystinuria were not included in the screening program. In contrast, general screening for phenylketonuria (PKU) remains undisputed and MS\/MS screening reduced false positives by simultaneously detecting phenylalanine and tyrosine. Recently, (6R)\u2010<jats:sc>L<\/jats:sc>\u2010<jats:italic>erythro<\/jats:italic>\u20105,6,7,8\u2010tetrahydrobiopterin (BH<jats:sub>4<\/jats:sub>)\u2010sensitive PKU has been discovered. We were able to demonstrate that BH<jats:sub>4<\/jats:sub> treatment without dietary restrictions may be sufficient for certain BH<jats:sub>4<\/jats:sub>\u2010responsive PKU patients. In general, MS\/MS provides a potential to rapidly screen for a wide variety of rare metabolic disorders but a close cooperation between scientists and metabolic doctors is required to constantly evaluate results in terms of improving the outcome of patients.<\/jats:p>","DOI":"10.1002\/mnfr.200500186","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T14:40:28Z","timestamp":1144334428000},"page":"443-450","source":"Crossref","is-referenced-by-count":12,"title":["Evaluation of electrospray\u2010tandem mass spectrometry for the detection of phenylketonuria and other rare disorders"],"prefix":"10.1002","volume":"50","author":[{"given":"Zoltan","family":"Lukacs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,4,6]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010371002631"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050973"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014385"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)09334-0"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.32.3.338"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","unstructured":"Zabransky S.(Ed.) Screening auf Angeborene Endokrine und Metabole St\u00f6rungen Springer Vienna 2001.","DOI":"10.1007\/978-3-7091-6252-1"},{"key":"e_1_2_1_9_2","first-page":"222","volume":"4","author":"Lukacs Z.","year":"2004","journal-title":"Neugeborenenscreening mittels Tandemmassenspektrometrie (MS\/MS) \u2013 Potenzial, Probleme und Perspektiven. Kinder\u2010 und Jugendmedizin"},{"key":"e_1_2_1_10_2","first-page":"4","author":"Roscher A.","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","unstructured":"Liebl B. Nennstiel\u2010Ratzel U. von Kries R. Roscher A. Abschlussbericht zum Modellprojekt zur Neuordnung des Neugeborenen\u2010Screenings in Bayern2001 http:\/\/www.lgl. bayern.de\/de\/left\/fachinformationen\/gesundheit\/_docs\/ _docs_screening\/bericht.pdf.","DOI":"10.1007\/978-3-7091-6252-1_9"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.1945"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.6.1399"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa025225"},{"key":"e_1_2_1_15_2","unstructured":"Wilson J. M. G. Jungner G. Principles of Screening for Disease World Health Organization Geneva 1968."},{"key":"e_1_2_1_16_2","doi-asserted-by":"crossref","unstructured":"Lukacs Z. Homozystinurie in: Zabransky S. (Ed.) Screening auf Angeborene Endokrine und Metabole St\u00f6rungen Springer Vienna 2001 pp. 260\u2013265.","DOI":"10.1007\/978-3-7091-6252-1_31"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70138-1"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00726-002-0354-0"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021654"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000037351.10132.99"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014371"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00692698"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1015529511664"},{"key":"e_1_2_1_24_2","first-page":"34","author":"Lukacs Z.","year":"2004","journal-title":"J. Inherit. Metab. 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