Year |
Citation |
Score |
2021 |
Loeber JG, Platis D, Zetterström RH, Almashanu S, Boemer F, Bonham JR, Borde P, Brincat I, Cheillan D, Dekkers E, Dimitrov D, Fingerhut R, Franzson L, Groselj U, Hougaard D, et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. International Journal of Neonatal Screening. 7. PMID 33808002 DOI: 10.3390/ijns7010015 |
0.592 |
|
2021 |
Fingerhut R, Schielen PCJI. Turns Seven-High Impact for Neonatal Screening. International Journal of Neonatal Screening. 7. PMID 33803971 DOI: 10.3390/ijns7010016 |
0.608 |
|
2021 |
Lucienne M, Mathis D, Perkins N, Fingerhut R, Baumgartner MR, Froese DS. Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (-ko/ki) of methylmalonic aciduria. Jimd Reports. 58: 44-51. PMID 33728246 DOI: 10.1002/jmd2.12182 |
0.584 |
|
2021 |
Franková V, Driscoll RO, Jansen ME, Loeber JG, Kožich V, Bonham J, Borde P, Brincat I, Cheillan D, Dekkers E, Fingerhut R, Kuš IB, Girginoudis P, Groselj U, Hougaard D, et al. Regulatory landscape of providing information on newborn screening to parents across Europe. European Journal of Human Genetics : Ejhg. 29: 67-78. PMID 33040093 DOI: 10.1038/s41431-020-00716-6 |
0.561 |
|
2020 |
Hijman AI, Konrad D, Fingerhut R. Determining Reference Ranges for Total T in Dried Blood Samples for Newborn Screening. International Journal of Neonatal Screening. 6. PMID 33561096 DOI: 10.3390/ijns6010017 |
0.602 |
|
2020 |
Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Mørkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, et al. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Molecular Genetics and Metabolism. 131: 135-146. PMID 33342467 DOI: 10.1016/j.ymgme.2020.08.003 |
0.624 |
|
2020 |
Hijman AI, Konrad D, Fingerhut R. Determining Reference Ranges for Total T in Dried Blood Samples for Newborn Screening. International Journal of Neonatal Screening. 6: 17. PMID 33073014 DOI: 10.3390/ijns6010017 |
0.602 |
|
2020 |
Mausbach P, Fingerhut R, Vrabec J. Structure and dynamics of the Lennard-Jones fcc-solid focusing on melting precursors. The Journal of Chemical Physics. 153: 104506. PMID 32933290 DOI: 10.1063/5.0015371 |
0.527 |
|
2020 |
Trück J, Prader S, Natalucci G, Hagmann C, Brotschi B, Kelly J, Bassler D, Steindl K, Rauch A, Baumgartner M, Fingerhut R, Hauri-Hohl M, Güngör T, Pachlopnik Schmid J, Berger C, et al. Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations. Swiss Medical Weekly. 150: w20254. PMID 32579701 DOI: 10.4414/smw.2020.20254 |
0.614 |
|
2020 |
Guevara-Carrion G, Fingerhut R, Vrabec J. Fick Diffusion Coefficient Matrix of a Quaternary Liquid Mixture by Molecular Dynamics. The Journal of Physical Chemistry. B. 124: 4527-4535. PMID 32204594 DOI: 10.1021/acs.jpcb.0c01625 |
0.519 |
|
2019 |
Sharma Pandey A, Joshi S, Rajbhandari R, Kansakar P, Dhakal S, Fingerhut R. Newborn Screening for Selected Disorders in Nepal: A Pilot Study. International Journal of Neonatal Screening. 5: 18. PMID 33072977 DOI: 10.3390/ijns5020018 |
0.628 |
|
2019 |
Lucienne M, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, da Silva-Buttkus P, Garrett L, Hölter SM, Mayer-Kuckuk P, Rathkolb B, Rozman J, Spielmann N, Treise I, Busch DH, Klopstock T, ... ... Fingerhut R, et al. In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria. Biochimica Et Biophysica Acta. Molecular Basis of Disease. 165622. PMID 31770620 DOI: 10.1016/J.Bbadis.2019.165622 |
0.614 |
|
2019 |
Malikova J, Zingg T, Fingerhut R, Sluka S, Grössl M, Brixius-Anderko S, Bernhardt R, McDougall J, Pandey AV, Flück CE. HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications. Hormone Research in Paediatrics. 1-9. PMID 31256164 DOI: 10.1159/000500522 |
0.55 |
|
2019 |
Srinivasan RC, Zabulica M, Hammarstedt C, Wu T, Gramignoli R, Kannisto K, Ellis E, Karadagi A, Fingerhut R, Allegri G, Rüfenacht V, Thöny B, Häberle J, Nuoffer JM, Strom SC. A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. Journal of Inherited Metabolic Disease. PMID 30843237 DOI: 10.1002/jimd.12067 |
0.569 |
|
2019 |
Andersson M, Hunziker S, Fingerhut R, Zimmermann MB, Herter-Aeberli I. Effectiveness of increased salt iodine concentration on iodine status: trend analysis of cross-sectional national studies in Switzerland. European Journal of Nutrition. PMID 30843107 DOI: 10.1007/s00394-019-01927-4 |
0.546 |
|
2019 |
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M, ... ... Fingerhut R, et al. Newborn screening for homocystinurias: Recent recommendations versus current practice. Journal of Inherited Metabolic Disease. 42: 128-139. PMID 30740731 DOI: 10.1002/jimd.12034 |
0.596 |
|
2019 |
Allegri G, Deplazes S, Rimann N, Causton B, Scherer T, Leff JW, Diez-Fernandez C, Klimovskaia A, Fingerhut R, Krijt J, Kožich V, Nuoffer JM, Grisch-Chan HM, Thöny B, Häberle J. Comprehensive characterization of ureagenesis in the spf mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification. Journal of Inherited Metabolic Disease. 42: 1064-1076. PMID 30714172 DOI: 10.1002/jimd.12068 |
0.594 |
|
2019 |
Farebrother J, Zimmermann M, Assey V, Castro MC, Cherkaoui M, Fingerhut R, Jia Q, Jukic T, Makokha A, San Luis TOL, Wegmuller R, Andersson M. Thyroglobulin is markedly elevated in 6-24-month-old infants at both low and high iodine intakes and suggests a narrow optimal iodine intake range. Thyroid : Official Journal of the American Thyroid Association. PMID 30648484 DOI: 10.1089/thy.2018.0321 |
0.571 |
|
2019 |
Wolking AB, Park JH, Grüneberg M, Reunert J, Fingerhut R, Fobker M, Marquardt T. Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences. 1106: 64-70. PMID 30641270 DOI: 10.1016/j.jchromb.2019.01.004 |
0.579 |
|
2018 |
Gaugler S, Rykl J, Wegner I, von Däniken T, Fingerhut R, Schlotterbeck G. Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection. International Journal of Neonatal Screening. 4: 2. PMID 33072928 DOI: 10.3390/ijns4010002 |
0.606 |
|
2018 |
Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, et al. Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy. Jama Neurology. PMID 30575854 DOI: 10.1001/jamaneurol.2018.2941 |
0.576 |
|
2018 |
Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, ... ... Fingerhut R, et al. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. British Journal of Haematology. PMID 30334577 DOI: 10.1111/bjh.15600 |
0.584 |
|
2018 |
Villiger L, Grisch-Chan HM, Lindsay H, Ringnalda F, Pogliano CB, Allegri G, Fingerhut R, Häberle J, Matos J, Robinson MD, Thöny B, Schwank G. Treatment of a metabolic liver disease by in vivo genome base editing in adult mice. Nature Medicine. 24: 1519-1525. PMID 30297904 DOI: 10.1038/s41591-018-0209-1 |
0.578 |
|
2018 |
Farebrother J, Zimmermann M, Abdallah F, Assey V, Fingerhut R, Gichohi-Wainaina WN, Hussein I, Makokha A, Sagno K, Untoro J, Watts M, Andersson M. The effect of excess iodine intake from iodized salt and/or groundwater iodine on thyroid function in non-pregnant and pregnant women, infants and children: a multicenter study in East Africa. Thyroid : Official Journal of the American Thyroid Association. PMID 30019625 DOI: 10.1089/thy.2018.0234 |
0.57 |
|
2018 |
Ansar M, Chung H, Waryah YM, Makrythanasis P, Falconnet E, Rao AR, Guipponi M, Narsani AK, Fingerhut R, Santoni FA, Ranza E, Waryah AM, Bellen HJ, Antonarakis SE. Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. Human Molecular Genetics. PMID 29771303 DOI: 10.1093/hmg/ddy180 |
0.55 |
|
2018 |
Diez-Fernandez C, Rüfenacht V, Gemperle C, Fingerhut R, Häberle J. Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Human Mutation. 39: 1029-1050. PMID 29726057 DOI: 10.1002/humu.23545 |
0.578 |
|
2018 |
Dold S, Zimmermann MB, Jukic T, Kusic Z, Jia Q, Sang Z, Quirino A, San Luis TOL, Fingerhut R, Kupka R, Timmer A, Garrett GS, Andersson M. Universal Salt Iodization Provides Sufficient Dietary Iodine to Achieve Adequate Iodine Nutrition during the First 1000 Days: A Cross-Sectional Multicenter Study. The Journal of Nutrition. 148: 587-598. PMID 29659964 DOI: 10.1093/jn/nxy015 |
0.567 |
|
2018 |
Pillai SM, Seebeck P, Fingerhut R, Huang J, Ming XF, Yang Z, Verrey F. Kidney Mass Reduction Leads to l-Arginine Metabolism-Dependent Blood Pressure Increase in Mice. Journal of the American Heart Association. 7. PMID 29478971 DOI: 10.1161/JAHA.117.008025 |
0.558 |
|
2017 |
Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner MR, Kölker S, Hoffmann GF, Gramer G, Okun JG. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. Plos One. 12: e0184897. PMID 28915261 DOI: 10.1371/journal.pone.0184897 |
0.625 |
|
2017 |
Nolting K, Park JH, Tegtmeyer LC, Zühlsdorf A, Grüneberg M, Rust S, Reunert J, Du Chesne I, Debus V, Schulze-Bahr E, Baxter RC, Wada Y, Thiel C, van Schaftingen E, Fingerhut R, et al. Limitations of galactose therapy in phosphoglucomutase 1 deficiency. Molecular Genetics and Metabolism Reports. 13: 33-40. PMID 28794993 DOI: 10.1016/j.ymgmr.2017.07.010 |
0.573 |
|
2017 |
Hirsch NM, Fingerhut R, Allison KC. The Prenatal Distress Measure; Adaptation of the Postpartum Distress Measure for a Prenatal Sample. Journal of Women's Health (2002). PMID 28402697 DOI: 10.1089/jwh.2016.5962 |
0.563 |
|
2017 |
Allegri G, Deplazes S, Grisch-Chan HM, Mathis D, Fingerhut R, Häberle J, Thöny B. A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes. Clinica Chimica Acta; International Journal of Clinical Chemistry. 464: 236-243. PMID 27923571 DOI: 10.1016/j.cca.2016.11.038 |
0.567 |
|
2017 |
Stinca S, Andersson M, Weibel S, Herter-Aeberli I, Fingerhut R, Gowachirapant S, Hess SY, Jaiswal N, Jukic T, Kusic Z, Mabapa NS, Nepal AK, San Luis TO, Zhen JQ, Zimmermann MB. Dried Blood Spot Thyroglobulin as a Biomarker of Iodine Status in Pregnant Women. The Journal of Clinical Endocrinology and Metabolism. 102: 23-32. PMID 27732337 DOI: 10.1210/jc.2016-2829 |
0.553 |
|
2017 |
Kemper EA, Boelen A, Bosch AM, van Veen-Sijne M, van Rijswijk CN, Bouva MJ, Fingerhut R, Schielen PC. Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme. Jimd Reports. 32: 1-6. PMID 27207469 DOI: 10.1007/8904_2016_560 |
0.606 |
|
2016 |
Gola JA, Beidas RS, Antinoro-Burke D, Kratz HE, Fingerhut R. Ethical Considerations in Exposure Therapy With Children. Cognitive and Behavioral Practice. 23: 184-193. PMID 27688681 DOI: 10.1016/J.Cbpra.2015.04.003 |
0.539 |
|
2016 |
Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Naegele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Koelker S, et al. Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. The Journal of Biological Chemistry. PMID 27519416 DOI: 10.1074/jbc.M116.747717 |
0.585 |
|
2016 |
Diez-Fernandez C, Wellauer O, Gemperle C, Rüfenacht V, Fingerhut R, Häberle J. Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. Journal of Medical Genetics. 53: 710-9. PMID 27287393 DOI: 10.1136/jmedgenet-2016-103937 |
0.563 |
|
2015 |
Rueegg CS, Barben J, Hafen GM, Moeller A, Jurca M, Fingerhut R, Kuehni CE. Newborn screening for cystic fibrosis - The parent perspective. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. PMID 26751132 DOI: 10.1016/j.jcf.2015.12.003 |
0.585 |
|
2015 |
Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, et al. Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain : a Journal of Neurology. 138: 2948-2963. PMID 26276013 DOI: 10.1093/brain/awv224 |
0.567 |
|
2015 |
Odenwald B, Dörr HG, Bonfig W, Schmidt H, Fingerhut R, Wildner M, Nennstiel-Ratzel U. Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria. Klinische Padiatrie. 227: 278-283. PMID 26090996 DOI: 10.1055/s-0035-1554639 |
0.608 |
|
2015 |
Guetg A, Mariotta L, Bock L, Herzog B, Fingerhut R, Camargo SM, Verrey F. Essential amino acid transporter Lat4 (Slc43a2) is required for mouse development. The Journal of Physiology. 593: 1273-89. PMID 25480797 DOI: 10.1113/jphysiol.2014.283960 |
0.573 |
|
2014 |
Fingerhut R, Silva Polanco ML, Silva Arevalo Gde J, Swiderska MA. First experience with a fully automated extraction system for simultaneous on-line direct tandem mass spectrometric analysis of amino acids and (acyl-)carnitines in a newborn screening setting. Rapid Communications in Mass Spectrometry : Rcm. 28: 965-73. PMID 24623702 DOI: 10.1002/rcm.6856 |
0.606 |
|
2014 |
Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, ... ... Fingerhut R, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. The New England Journal of Medicine. 370: 533-42. PMID 24499211 DOI: 10.1056/Nejmoa1206605 |
0.569 |
|
2013 |
Sweeney AC, Fingerhut R. Examining relationships between body dissatisfaction, maladaptive perfectionism, and postpartum depression symptoms. Journal of Obstetric, Gynecologic, and Neonatal Nursing : Jognn / Naacog. 42: 551-61. PMID 24004109 DOI: 10.1111/1552-6909.12236 |
0.519 |
|
2013 |
Torresani T, Fingerhut R, Rueegg CS, Gallati S, Kuehni CE, Baumgartner MR, Barben J, Barazzone C, Casaulta C, Mornand A, Eng P, Hafen G, Hammer J, Möller A, Müller D, et al. Newborn screening for cystic fibrosis in Switzerland - Consequences after analysis of a 4 months pilot study Journal of Cystic Fibrosis. 12: 667-674. PMID 23712087 DOI: 10.1016/j.jcf.2013.04.008 |
0.606 |
|
2012 |
Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, Baumgartner MR, Rohrbach M. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism. 106: 264-8. PMID 22607939 DOI: 10.1016/j.ymgme.2012.04.016 |
0.563 |
|
2012 |
Ensenauer R, Fingerhut R, Schriever SC, Fink B, Becker M, Sellerer NC, Pagel P, Kirschner A, Dame T, Olgemöller B, Röschinger W, Roscher AA. In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes. Journal of Lipid Research. 53: 1012-20. PMID 22345709 DOI: 10.1194/jlr.D022608 |
0.564 |
|
2012 |
Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T. Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland. Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society. 11: 332-6. PMID 22300503 DOI: 10.1016/j.jcf.2012.01.001 |
0.596 |
|
2011 |
Ensenauer R, Fingerhut R, Maier EM, Polanetz R, Olgemöller B, Röschinger W, Muntau AC. Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns. Clinical Chemistry. 57: 623-6. PMID 21335445 DOI: 10.1373/clinchem.2010.151134 |
0.596 |
|
2010 |
Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC. New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Biochemical Pharmacology. 80: 1563-71. PMID 20705059 DOI: 10.1016/J.Bcp.2010.07.042 |
0.589 |
|
2010 |
Fingerhut R, De Jesus Silva Arevalo G, Baumgartner MR, Häberle J, Rohrbach M, Figueroa AW, Fresse EM, Polanco OL, Torresani T. Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. Journal of Inherited Metabolic Disease. 33: S235-9. PMID 20652412 DOI: 10.1007/s10545-010-9167-6 |
0.557 |
|
2010 |
Gersting SW, Lagler FB, Eichinger A, Kemter KF, Danecka MK, Messing DD, Staudigl M, Domdey KA, Zsifkovits C, Fingerhut R, Glossmann H, Roscher AA, Muntau AC. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Human Molecular Genetics. 19: 2039-49. PMID 20179079 DOI: 10.1093/Hmg/Ddq085 |
0.57 |
|
2009 |
Maier EM, Pongratz J, Muntau AC, Liebl B, Nennstiel-Ratzel U, Busch U, Fingerhut R, Olgemöller B, Roscher AA, Röschinger W. Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. Clinical Genetics. 76: 179-87. PMID 19780764 DOI: 10.1111/j.1399-0004.2009.01217.x |
0.592 |
|
2009 |
Simon E, Vogel M, Fingerhut R, Ristoff E, Mayatepek E, Spiekerkötter U. Diagnosis of glutathione synthetase deficiency in newborn screening. Journal of Inherited Metabolic Disease. 32: S269-72. PMID 19728142 DOI: 10.1007/s10545-009-1213-x |
0.647 |
|
2009 |
Fingerhut R. False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values. Steroids. 74: 662-5. PMID 19463687 DOI: 10.1016/j.steroids.2009.02.008 |
0.618 |
|
2009 |
Fingerhut R, Ensenauer R, Röschinger W, Arnecke R, Olgemöller B, Roscher AA. Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency. Analytical Chemistry. 81: 3571-5. PMID 19323528 DOI: 10.1021/ac8022235 |
0.627 |
|
2009 |
Fingerhut R, Olgemöller B. Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Analytical and Bioanalytical Chemistry. 393: 1481-97. PMID 19043700 DOI: 10.1007/s00216-008-2505-y |
0.616 |
|
2009 |
Fingerhut R. Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline. European Journal of Pediatrics. 168: 599-604. PMID 18682982 DOI: 10.1007/s00431-008-0804-0 |
0.574 |
|
2009 |
Fingerhut R, Dame T, Olgemöller B. Determination of EDTA in dried blood samples by tandem mass spectrometry avoids serious errors in newborn screening. European Journal of Pediatrics. 168: 553-8. PMID 18651177 DOI: 10.1007/s00431-008-0788-9 |
0.628 |
|
2008 |
Appolonio KK, Fingerhut R. Postpartum depression in a military sample. Military Medicine. 173: 1085-91. PMID 19055183 DOI: 10.7205/milmed.173.11.1085 |
0.545 |
|
2008 |
Fingerhut R, Simon E, Maier EM, Hennermann JB, Wendel U. Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. Clinical Chemistry. 54: 1739-41. PMID 18824578 DOI: 10.1373/clinchem.2008.105270 |
0.608 |
|
2007 |
Johnson DW, Gerace R, Ranieri E, Trinh MU, Fingerhut R. Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry. Rapid Communications in Mass Spectrometry : Rcm. 21: 59-63. PMID 17133337 DOI: 10.1002/rcm.2806 |
0.57 |
|
2006 |
Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, ... ... Fingerhut R, et al. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Human Mutation. 27: 748-59. PMID 16835865 DOI: 10.1002/humu.20349 |
0.61 |
|
2006 |
Simon E, Fingerhut R, Baumkötter J, Konstantopoulou V, Ratschmann R, Wendel U. Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. Journal of Inherited Metabolic Disease. 29: 532-7. PMID 16817013 DOI: 10.1007/s10545-006-0315-y |
0.62 |
|
2005 |
Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Human Mutation. 25: 443-52. PMID 15832312 DOI: 10.1002/humu.20163 |
0.619 |
|
2005 |
Kösel S, Burggraf S, Fingerhut R, Dörr HG, Roscher AA, Olgemöller B. Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency. Clinical Chemistry. 51: 298-304. PMID 15608154 DOI: 10.1373/clinchem.2004.042416 |
0.612 |
|
2003 |
Olgemöller B, Roscher AA, Liebl B, Fingerhut R. Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. The Journal of Clinical Endocrinology and Metabolism. 88: 5790-4. PMID 14671170 DOI: 10.1210/jc.2002-021732 |
0.601 |
|
2003 |
Röschinger W, Olgemöller B, Fingerhut R, Liebl B, Roscher AA. Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases. European Journal of Pediatrics. 162: S67-76. PMID 14618396 DOI: 10.1007/s00431-003-1356-y |
0.613 |
|
2003 |
Fingerhut R. Stable isotope dilution method for the determination of guanidinoacetic acid by gas chromatography/mass spectrometry. Rapid Communications in Mass Spectrometry : Rcm. 17: 717-22. PMID 12661026 DOI: 10.1002/rcm.966 |
0.58 |
|
2003 |
Santer R, Fingerhut R, Lässker U, Wightman PJ, Fitzpatrick DR, Olgemöller B, Roscher AA. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Clinical Chemistry. 49: 660-2. PMID 12651823 |
0.626 |
|
2002 |
Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemöller B, Zapf A, Roscher AA. Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing. Preventive Medicine. 34: 132-7. PMID 11817907 DOI: 10.1006/pmed.2001.0954 |
0.596 |
|
2002 |
Liebl B, Nennstiel-Ratzel U, von Kries R, Fingerhut R, Olgemöller B, Zapf A, Roscher AA. Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent. Preventive Medicine. 34: 127-31. PMID 11817906 DOI: 10.1006/pmed.2001.0952 |
0.585 |
|
2001 |
Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clinical Chemistry. 47: 1763-8. PMID 11568084 |
0.61 |
|
2000 |
Liebl B, Fingerhut R, Röschinger W, Muntau A, Knerr I, Olgemöller B, Zapf A, Roscher AA. [Model project for updating neonatal screening in Bavaria: concept and initial results]. Gesundheitswesen (Bundesverband Der äRzte Des öFfentlichen Gesundheitsdienstes (Germany)). 62: 189-95. PMID 10844815 DOI: 10.1055/s-2000-10856 |
0.624 |
|
2000 |
Das AM, Fingerhut R, Wanders RJ, Ullrich K. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. European Journal of Pediatrics. 159: 243-6. PMID 10789927 DOI: 10.1007/s004310050063 |
0.564 |
|
1999 |
Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut R, Stehn M, Kohlschütter A. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. European Journal of Pediatrics. 158: 730-3. PMID 10485305 DOI: 10.1007/s004310051189 |
0.536 |
|
1998 |
Fingerhut R. Determination of cerebrospinal fluid glucose with the vitros DT60 II dry chemistry system. Clinical Chemistry. 44: 2000-1. PMID 9732996 |
0.527 |
|
1998 |
Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, Gibson KM. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. American Journal of Medical Genetics. 78: 408-12. PMID 9714005 DOI: 10.1002/(SICI)1096-8628(19980806)78:5<408::AID-AJMG3>3.0.CO;2-H |
0.549 |
|
1998 |
Flott-Rahmel B, Schürmann M, Schluff P, Fingerhut R, Musshoff U, Fowler B, Ullrich K. Homocysteic and homocysteine sulphinic acid exhibit excitotoxicity in organotypic cultures from rat brain. European Journal of Pediatrics. 157: S112-7. PMID 9587037 |
0.527 |
|
1998 |
Spranger T, Finckh B, Fingerhut R, Kohlschütter A, Beisiegel U, Kontush A. How different constituents of human plasma and low density lipoprotein determine plasma oxidizability by copper. Chemistry and Physics of Lipids. 91: 39-52. PMID 9488998 DOI: 10.1016/S0009-3084(97)00092-3 |
0.527 |
|
1997 |
Fingerhut R, Stehn M, Kohlschütter A. Comparison of four different phenylalanine determination methods. Clinica Chimica Acta; International Journal of Clinical Chemistry. 264: 65-73. PMID 9267704 DOI: 10.1016/S0009-8981(97)00074-0 |
0.533 |
|
1997 |
Flott-Rahmel B, Falter C, Schluff P, Fingerhut R, Christensen E, Jakobs C, Musshoff U, Fautek JD, Deufel T, Ludolph A, Ullrich K. Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia I. Journal of Inherited Metabolic Disease. 20: 387-90. PMID 9266362 DOI: 10.1023/a:1005342331229 |
0.528 |
|
1995 |
Schmitz W, Albers C, Fingerhut R, Conzelmann E. Purification and characterization of an alpha-methylacyl-CoA racemase from human liver. European Journal of Biochemistry / Febs. 231: 815-22. PMID 7649182 |
0.536 |
|
1994 |
Schmitz W, Fingerhut R, Conzelmann E. Purification and properties of an alpha-methylacyl-CoA racemase from rat liver. European Journal of Biochemistry / Febs. 222: 313-23. PMID 8020470 |
0.531 |
|
1994 |
Fingerhut R, Schmitz W, Garavaglia B, Reichmann H, Conzelmann E. Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: evidence for the involvement of ETF and the respiratory chain in phytanic acid alpha-oxidation. Journal of Inherited Metabolic Disease. 17: 527-32. PMID 7837758 DOI: 10.1007/BF00711585 |
0.551 |
|
1993 |
Fingerhut R, Schmitz W, Conzelmann E. Accumulation of phytanic acid alpha-oxidation intermediates in Zellweger fibroblasts. Journal of Inherited Metabolic Disease. 16: 591-4. PMID 7541878 |
0.543 |
|
1992 |
Fingerhut R, van der Horst GT, Verheijen FW, Conzelmann E. Degradation of gangliosides by the lysosomal sialidase requires an activator protein. European Journal of Biochemistry. 208: 623-9. PMID 1396669 DOI: 10.1111/j.1432-1033.1992.tb17227.x |
0.545 |
|
1984 |
Fingerhut R, Kiefer J, Otto F. Cell cycle parameters in radiation sensitive strains of Saccharomyces cerevisiae. Molecular & General Genetics : Mgg. 193: 192-4. PMID 6361498 DOI: 10.1007/BF00327437 |
0.545 |
|
1983 |
Fingerhut R, Kiefer J, Otto F. Cellular radiation effects and hyperthermia cell cycle kinetics of radiation sensitive mutants of Saccharomyces cerevisiae after X-irradiation and hyperthermia. Radiation and Environmental Biophysics. 22: 269-80. PMID 6364198 DOI: 10.1007/BF01323677 |
0.552 |
|
1980 |
Fingerhut R, Otto F, Oldiges H, Kiefer J. Cellular radiation effects and hyperthermia: cytokinetic investigations with stationary phase yeast cells. Radiation and Environmental Biophysics. 18: 19-26. PMID 7003645 DOI: 10.1007/BF01324370 |
0.538 |
|
1976 |
Herman PG, Lyonnet D, Fingerhut R, Tuttle RN. Regional blood flow to the lymph node during the immune response. Lymphology. 9: 101-4. PMID 1004013 |
0.528 |
|
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