R. Fingerhut

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Very high compliance in an expanded MS-MS-based newborn screening program despite written parental consent.

Bernhard Liebl, Andreas Zapf, Ralph Fingerhut, 2002, Preventive medicine.

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.

R. Fingerhut, Maria Lucia Silva Polanco, Gabriel de Jesus Silva Arevalo, 2014, Rapid communications in mass spectrometry : RCM.

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.

S. Gersting, R. Fingerhut, A. Roscher, 2010, Human molecular genetics.

Newborn screening for homocystinurias: Recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of inherited metabolic disease.

Newborn screening for homocystinurias: recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of Inherited Metabolic Disease.

Validation of MCADD newborn screening

J. Pongratz, B. Liebl, U. Nennstiel-Ratzel, 2009 .

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

D. Noain, C. Baumann, Aurora Martínez, 2015, Brain : a journal of neurology.

How different constituents of human plasma and low density lipoprotein determine plasma oxidizability by copper.

U. Beisiegel, R. Fingerhut, B. Finckh, 1998, Chemistry and physics of lipids.

Effectiveness of increased salt iodine concentration on iodine status: trend analysis of cross-sectional national studies in Switzerland

M. Zimmermann, R. Fingerhut, I. Herter-Aeberli, 2019, European Journal of Nutrition.

Dried Blood Spot Thyroglobulin as a Biomarker of Iodine Status in Pregnant Women

M. Zimmermann, R. Fingerhut, T. Jukić, 2017, The Journal of clinical endocrinology and metabolism.

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

D. Fitzpatrick, R. Fingerhut, B. Olgemöller, 2003, Clinical chemistry.

Effect of Excess Iodine Intake from Iodized Salt and/or Groundwater Iodine on Thyroid Function in Nonpregnant and Pregnant Women, Infants, and Children: A Multicenter Study in East Africa.

M. Zimmermann, R. Fingerhut, M. Watts, 2018, Thyroid : official journal of the American Thyroid Association.

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

Y. Wada, E. Schulze-Bahr, R. Baxter, 2017, Molecular genetics and metabolism reports.

Kidney Mass Reduction Leads to l‐Arginine Metabolism‐Dependent Blood Pressure Increase in Mice

R. Fingerhut, Zhihong Yang, X. Ming, 2018, Journal of the American Heart Association.

Stable isotope dilution method for the determination of guanidinoacetic acid by gas chromatography/mass spectrometry.

R. Fingerhut, 2003, Rapid communications in mass spectrometry : RCM.

Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria

M. Baumgartner, D. S. Froese, R. Fingerhut, 2020, JIMD reports.

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

S. Wortmann, R. Fingerhut, J. Häberle, 2021, International journal of neonatal screening.

Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation

B. Thöny, R. Fingerhut, M. Huemer, 2017 .

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

R. Fingerhut, B. Olgemöller, R. Ensenauer, 2011, Clinical chemistry.

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

H. Troxler, B. Liebl, T. Dame, 2001, Clinical chemistry.

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

M. Baumgartner, N. Blau, B. Thöny, 2012, Molecular genetics and metabolism.

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

S. Gersting, R. Fingerhut, M. Staudigl, 2010, Biochemical pharmacology.

Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I

T. Marquardt, R. Fingerhut, S. Rust, 2019, American journal of medical genetics. Part A.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

R. Fingerhut, S. Joshi, P. Kansakar, 2019, International journal of neonatal screening.

Homocysteic and homocysteine sulphinic acid exhibit excitotoxicity in organotypic cultures from rat brain

R. Fingerhut, K. Ullrich, B. Fowler, 1998, European Journal of Pediatrics.

Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria

H. Dörr, M. Wildner, U. Nennstiel-Ratzel, 2015, Klinische Pädiatrie.

Diagnosis of glutathione synthetase deficiency in newborn screening

E. Mayatepek, R. Fingerhut, M. Vogel, 2009, Journal of Inherited Metabolic Disease.

Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease

R. Fingerhut, R. Ratschmann, U. Wendel, 2006, Journal of Inherited Metabolic Disease.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

L. Vilarinho, J. Elion, F. Piel, 2018, British journal of haematology.

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification

A. Klimovskaia, J. Leff, H. M. Grisch-Chan, 2019, Journal of inherited metabolic disease.

Essential amino acid transporter Lat4 (Slc43a2) is required for mouse development

R. Fingerhut, F. Verrey, S. Camargo, 2015, The Journal of physiology.

In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes[S]

and D. Kirschner, P. Pagel, T. Dame, 2012, Journal of Lipid Research.

Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.

M. Baumgartner, J. Trück, A. Rauch, 2020, Swiss medical weekly.

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.

M. Baumgartner, S. Gallati, R. Fingerhut, 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Regulatory landscape of providing information on newborn screening to parents across Europe

D. Hougaard, L. Vilarinho, J. Loeber, 2020, European journal of human genetics : EJHG.

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.

H. Fuchs, M. Angelis, D. Busch, 2019, Biochimica et biophysica acta. Molecular basis of disease.

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

M. Baumgartner, R. Fingerhut, S. Kölker, 2017, PloS one.

A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.

H. M. Grisch-Chan, B. Thöny, R. Fingerhut, 2017, Clinica chimica acta; international journal of clinical chemistry.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect*

T. Hornemann, M. Baumgartner, D. S. Froese, 2016, The Journal of Biological Chemistry.

Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

Bernhard Liebl, Ralph Fingerhut, B. Liebl, 2003, European Journal of Pediatrics.

Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls

R. Wanders, R. Fingerhut, A. Das, 2000, European Journal of Pediatrics.

Universal Salt Iodization Provides Sufficient Dietary Iodine to Achieve Adequate Iodine Nutrition during the First 1000 Days: A Cross-Sectional Multicenter Study.

Greg S Garrett, M. Zimmermann, R. Fingerhut, 2018, The Journal of nutrition.

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

R. Fingerhut, B. Olgemöller, 2009, Analytical and bioanalytical chemistry.

Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

J. Fletcher, I. Knerr, P. Mayerhofer, 2006, Human mutation.

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.

R. Fingerhut, B. Olgemöller, A. Roscher, 2009, Analytical chemistry.

Newborn Screening for Inborn Errors of Metabolism

R. Fingerhut, E. Ranieri, J. Fletcher, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Determination of EDTA in dried blood samples by tandem mass spectrometry avoids serious errors in newborn screening

T. Dame, R. Fingerhut, B. Olgemöller, 2009, European Journal of Pediatrics.

Purification and characterization of an alpha-methylacyl-CoA racemase from human liver.

R. Fingerhut, C. Albers, W. Schmitz, 1995, European journal of biochemistry.

Purification and properties of an alpha-methylacyl-CoA racemase from rat liver.

R. Fingerhut, W. Schmitz, E. Conzelmann, 1994, European journal of biochemistry.

A Simple Method to Overcome the “Floating Disc Problem” Using the GALT-Assay on the PerkinElmer GSP—Remeasurement on a Stand Alone Plate Fluorimeter

R. Fingerhut, S. Sluka, 2016 .

Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α-oxidation

H. Reichmann, R. Fingerhut, B. Garavaglia, 1994, Journal of Inherited Metabolic Disease.

Accumulation of phytanic acid α-oxidation intermediates in Zellweger fibroblasts

R. Fingerhut, W. Schmitz, E. Conzelmann, 1993, Journal of Inherited Metabolic Disease.

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

R. Fingerhut, J. Häberle, V. Rüfenacht, 2018, Human mutation.

A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency

S. Strom, B. Thöny, R. Fingerhut, 2019, Journal of inherited metabolic disease.

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

Lukas Villiger, Gerald Schwank, Mark D Robinson, 2018, Nature Medicine.

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

M. Robinson, Helen Lindsay, Joao Matos, 2018, Nature Medicine.

Expanded newborn screening in Bavaria: tracking to achieve requested repeat testing.

Bernhard Liebl, Andreas Zapf, Ralph Fingerhut, 2002, Preventive medicine.

Newborn screening for cystic fibrosis - The parent perspective.

R. Fingerhut, A. Moeller, G. Hafen, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium‐chain acyl‐CoA dehydrogenase deficiency

Bernhard Liebl, Nils Krone, Ulrich Busch, 2005, Human mutation.

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

S. Antonarakis, E. Falconnet, H. Bellen, 2018, Human molecular genetics.

Determining Reference Ranges for Total T4 in Dried Blood Samples for Newborn Screening

R. Fingerhut, D. Konrad, A. Hijman, 2020, International journal of neonatal screening.

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

S. Almashanu, D. Hougaard, M. Kocova, 2021, International journal of neonatal screening.

Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value.

Bernhard Liebl, Ralph Fingerhut, B. Liebl, 2003, The Journal of clinical endocrinology and metabolism.

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.

M. Zimmermann, R. Fingerhut, M. Cherkaoui, 2019, Thyroid : official journal of the American Thyroid Association.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

R. Houwen, J. Jans, R. Fingerhut, 2019, JAMA neurology.

Degradation of gangliosides by the lysosomal sialidase requires an activator protein.

R. Fingerhut, F. Verheijen, E. Conzelmann, 1992, European journal of biochemistry.

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

K. Gibson, G. Hoffmann, R. Kelley, 1998, American journal of medical genetics.

HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications

R. Fingerhut, C. Flück, A. Pandey, 2019, Hormone Research in Paediatrics.

Analysis of succinylacetone, as a Girard T derivative, in urine and dried bloodspots by flow injection electrospray ionization tandem mass spectrometry.

R. Fingerhut, M. Trinh, David W. Johnson, 2007, Rapid communications in mass spectrometry : RCM.

Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.

H. Dörr, R. Fingerhut, B. Olgemöller, 2005, Clinical chemistry.

False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)–ether extraction reveals two distinct reasons for elevated 17α-hydroxyprogesterone (17-OHP) values

R. Fingerhut, 2009, Steroids.

Determination of cerebrospinal fluid glucose with the vitros DT60 II dry chemistry system.

R. Fingerhut, 1998, Clinical chemistry.

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

R. Fingerhut, J. Häberle, V. Rüfenacht, 2016, Journal of Medical Genetics.

Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection

Götz Schlotterbeck, Stefan Gaugler, Jana Rykl, 2017, International journal of neonatal screening.

Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

E. Christensen, T. Deufel, R. Fingerhut, 1997, Journal of Inherited Metabolic Disease.

Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme.

R. Fingerhut, A. Boelen, A. Bosch, 2016, JIMD reports.

Evaluation of the genetic screening processor (GSP™) for newborn screening

R. Fingerhut, T. Torresani, 2013 .

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

R. Fingerhut, 2021, International journal of neonatal screening.

Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.

M. Baumgartner, S. Gallati, R. Fingerhut, 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

S. Wortmann, N. Voermans, L. Al-Gazali, 2020, Molecular genetics and metabolism.

Prevalence of Transient Hypothyroidism in Children Diagnosed with Congenital Hypothyroidism between 2000 and 2016

R. Fingerhut, D. Konrad, Sabrina Gmür, 2023, International journal of molecular sciences.

Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.

M. Fobker, T. Marquardt, R. Fingerhut, 2019, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

T. Suormala, M. Durán, R. Fingerhut, 1999, European Journal of Pediatrics.

MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

M. Baumgartner, N. Rupp, A. Rauch, 2017 .

Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms.

R. Fingerhut, E. Maier, J. Hennermann, 2008, Clinical chemistry.

A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

R. Fingerhut, M. Heck, W. Röschinger, 2016 .

Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline

R. Fingerhut, 2009, European Journal of Pediatrics.

In situ assay of fatty acid β-oxidation by metabolite profiling following permeabilization of cell membranes[S]

and D. Kirschner, P. Pagel, T. Dame, 2012, Journal of Lipid Research.

Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

J. Fletcher, I. Knerr, P. Mayerhofer, 2006, Human Mutation.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect*

T. Hornemann, D. S. Froese, O. Devuyst, 2016, The Journal of Biological Chemistry.

Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis

S. Gallati, R. Fingerhut, C. Kuehni, 2022, Archives of Disease in Childhood.

Retrospective analysis of stored dried blood spots (Guthrie cards) using IRT measurements to detect clinically diagnosed children with cystic fibrosis in Switzerland

R. Fingerhut, J. Barben, T. Torresani, 2010 .

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

M. Baumgartner, N. Blau, B. Thöny, 2012, Molecular genetics and metabolism.