Publications by authors named "Ralph Fingerhut"

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A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.
Uta Nennstiel, Inken Brockow, Birgit Odenwald, Carola Marzi, Marianne Hanauer, Ralph Fingerhut

Int J Neonatal Screen· December 2025

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Ten-Year Anniversary of the : Revisiting Its Scope.
Ralph Fingerhut, Peter C J I Schielen

Int J Neonatal Screen· June 2025

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The effects of age and sex on reference intervals for cobalamin, homocysteine, and serum and urinary methylmalonic acid in healthy adult dogs.
Anna-Lena Proksch, Sophia Schaefer, Vanessa Dreller, Judith Langenstein, Ralph Fingerhut

J Vet Intern Med· December 2024

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Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis.
Ralph Fingerhut, Corina Silvia Rueegg, Orell Imahorn, Eva Sophie Lunde Pedersen, Claudia Elisabeth Kuehni

Arch Dis Child Fetal Neonatal Ed· March 2023

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Prevalence of Transient Hypothyroidism in Children Diagnosed with Congenital Hypothyroidism between 2000 and 2016.
Sabrina Gmür, Daniel Konrad, Ralph Fingerhut

Int J Mol Sci· February 2023

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The Editor's Choice for Issue 3, Volume 7.
Ralph Fingerhut

Int J Neonatal Screen· December 2021

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Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. . 2021, , 32.
Johannes Spenger, Esther M Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Ralph Fingerhut

Int J Neonatal Screen· December 2021

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Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms.
Ralph Fingerhut

Int J Neonatal Screen· August 2021

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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Federica Conte, Eva Morava, Nurulamin Abu Bakar, Saskia B Wortmann, Anne Jonge Poerink, Ralph Fingerhut

Mol Genet Metab· June 2021

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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.
Johannes Spenger, Esther M Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Ralph Fingerhut

Int J Neonatal Screen· June 2021

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Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (-ko/ki) of methylmalonic aciduria.
Marie Lucienne, Déborah Mathis, Nathan Perkins, Ralph Fingerhut, Matthias R Baumgartner

JIMD Rep· March 2021

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Turns Seven-High Impact for Neonatal Screening.
Ralph Fingerhut, Peter C J I Schielen

Int J Neonatal Screen· March 2021

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.
J Gerard Loeber, Dimitris Platis, Rolf H Zetterström, Shlomo Almashanu, François Boemer, Ralph Fingerhut

Int J Neonatal Screen· March 2021

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Regulatory landscape of providing information on newborn screening to parents across Europe.
Věra Franková, Riona O Driscoll, Marleen E Jansen, J Gerard Loeber, Viktor Kožich, Ralph Fingerhut

Eur J Hum Genet· January 2021

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Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.
Johannes Trück, Seraina Prader, Giancarlo Natalucci, Cornelia Hagmann, Barbara Brotschi, Ralph Fingerhut

Swiss Med Wkly· June 2020

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Effectiveness of increased salt iodine concentration on iodine status: trend analysis of cross-sectional national studies in Switzerland.
Maria Andersson, Sandra Hunziker, Ralph Fingerhut, Michael B Zimmermann, Isabelle Herter-Aeberli

Eur J Nutr· March 2020

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In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
Marie Lucienne, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Julia Calzada-Wack, Ralph Fingerhut

Biochim Biophys Acta Mol Basis Dis· March 2020

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Determining Reference Ranges for Total T in Dried Blood Samples for Newborn Screening.
Anna-Isabella Hijman, Daniel Konrad, Ralph Fingerhut

Int J Neonatal Screen· March 2020

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HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications.
Jana Malikova, Tanja Zingg, Ralph Fingerhut, Susanna Sluka, Michael Grössl

Horm Res Paediatr· January 2020

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Comprehensive characterization of ureagenesis in the spf mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
Gabriella Allegri, Sereina Deplazes, Nicole Rimann, Benjamin Causton, Tanja Scherer, Ralph Fingerhut

J Inherit Metab Dis· November 2019

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A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
Raghuraman C Srinivasan, Mihaela Zabulica, Christina Hammarstedt, Tingting Wu, Roberto Gramignoli, Ralph Fingerhut

J Inherit Metab Dis· November 2019

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Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.
Janine Reunert, Stephan Rust, Marianne Grüneberg, Anja Seelhöfer, Daniel Kurz, Ralph Fingerhut

Am J Med Genet A· July 2019

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Newborn Screening for Selected Disorders in Nepal: A Pilot Study.
Arti Sharma Pandey, Suchita Joshi, Rateena Rajbhandari, Prerana Kansakar, Sadichhya Dhakal, Ralph Fingerhut

Int J Neonatal Screen· June 2019

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Thyroglobulin Is Markedly Elevated in 6- to 24-Month-Old Infants at Both Low and High Iodine Intakes and Suggests a Narrow Optimal Iodine Intake Range.
Jessica Farebrother, Michael B Zimmermann, Vincent Assey, Mary Christine Castro, Mohamed Cherkaoui, Ralph Fingerhut

Thyroid· February 2019

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Newborn screening for homocystinurias: Recent recommendations versus current practice.
Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Ralph Fingerhut

J Inherit Metab Dis· January 2019

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