S. Grünert

发表

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

S. Grünert, J. Sass, 2020, Orphanet Journal of Rare Diseases.

Targeted Metabolic Profiling of Methionine Cycle Metabolites and Redox Thiol Pools in Mammalian Plasma, Cells and Urine

O. Schilling, S. Grünert, J. Staerk, 2019, Metabolites.

Impact of glycogen storage disease type I on adult daily life: a survey

S. Grünert, P. Burgard, S. Garbade, 2021, Orphanet Journal of Rare Diseases.

Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening

S. Grünert, S. Tucci, Sidney Behringer, 2019, Journal of inherited metabolic disease.

Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia

S. Grünert, I. Bódi, K. Odening, 2017, Orphanet Journal of Rare Diseases.

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

S. Wortmann, S. Grünert, T. Derks, 2020, Orphanet Journal of Rare Diseases.

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

S. Grünert, K. Tsiakas, R. Santer, 2021, Genes.

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

S. Ehl, C. Niemeyer, S. Grünert, 2015, Pediatric blood & cancer.

Against all odds: blended phenotypes of three single-gene defects

A. Köttgen, S. Grünert, B. Zabel, 2016, European Journal of Human Genetics.

Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders

J. Vockley, J. Hagenbuchner, M. Ausserlechner, 2021, Cells.

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

S. Edland, J. Vockley, B. Burton, 2004, American journal of human genetics.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients

S. Grünert, Irene J. Hoogeveen, T. Derks, 2020 .

How strict is galactose restriction in adults with galactosaemia? International practice.

S. Grünert, A. Macdonald, S. Evans, 2015, Molecular genetics and metabolism.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

P. Chinnery, Hanns Lochmüller, R. Horvath, 2018, Human molecular genetics.

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

M. Schmidts, S. Grünert, B. Stiller, 2021, Genes.

Citrin deficiency mimicking mitochondrial depletion syndrome

M. Schmidts, T. Haack, S. Grünert, 2020, BMC Pediatrics.

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

M. Kabra, S. Grünert, J. Sass, 2020, Molecular Genetics and Metabolism.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

R. Horvath, S. Grünert, J. Kirschner, 2016, Orphanet Journal of Rare Diseases.

Mutation analysis in 54 propionic acidemia patients

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Mechanisms of acquired long QT syndrome in patients with propionic academia.

C. Bode, Nadine Becker, S. Stoelzle-Feix, 2016, Heart rhythm.

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

S. Grünert, K. Tsiakas, M. Lindner, 2021, Journal of inherited metabolic disease.

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations

R. Rauh, K. Hennighausen, S. Grünert, 2013, Nutrition Journal.

Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells

S. Grünert, J. Sass, Kristin L. Schaller, 2021, Journal of inherited metabolic disease.

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

H. Blom, Y. Chien, S. Grünert, 2016, Journal of Inherited Metabolic Disease.

Three successful pregnancies in a patient with glycogen storage disease type 0

S. Grünert, L. Hannibal, A. Schumann, 2020, JIMD reports.

Impact of glycogen storage disease type I on adult daily life: a survey

S. Grünert, P. Burgard, S. Garbade, 2021, Orphanet Journal of Rare Diseases.

Propionic acidemia: neonatal versus selective metabolic screening

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib

S. Grünert, W. Merz, A. Schumann, 2022, JIMD reports.

Successful pregnancy in a woman with glycogen storage disease type 6

S. Grünert, L. Hannibal, A. Schumann, 2021, Molecular genetics and metabolism reports.

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

S. Grünert, J. Sass, 2019, Orphanet Journal of Rare Diseases.

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

A. Yoshimi, C. Niemeyer, S. Grünert, 2022, Orphanet Journal of Rare Diseases.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

W. Yue, E. Faqeih, S. Grünert, 2021, Biochimie.

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

M. Schmidts, S. Grünert, K. Schwab, 2011, Case reports in pediatrics.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening

S. Grünert, S. Kölker, R. Posset, 2022, Journal of inherited metabolic disease.

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

I. Mader, J. Reiss, S. Grünert, 2018, Journal of Inherited Metabolic Disease.

Severe allergic contact dermatitis to two different continuous glucose monitoring devices in a patient with glycogen storage disease type 9b

S. Grünert, S. Müller, Ulrike Teufel-Schäfer, 2021, Pediatric dermatology.

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

M. Baumgartner, T. Suormala, S. Grünert, 2012, Molecular genetics and metabolism.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Disorders of Ketone Body Metabolism

S. Grünert, J. Sass, 2014 .

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

M. Baumgartner, M. Hochuli, S. Grünert, 2021, Journal of inherited metabolic disease.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

M. Baumgartner, T. Suormala, S. Grünert, 2013, Orphanet Journal of Rare Diseases.

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

S. Grünert, 2014, Orphanet Journal of Rare Diseases.

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

S. Grünert, J. Sass, K. Schwab, 2013, Journal of Diabetes & Metabolic Disorders.

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

M. Leichsenring, S. Grünert, S. Kölker, 2020, Pediatrics.

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

M. Leichsenring, J. Vockley, S. Grünert, 2012, Orphanet Journal of Rare Diseases.

Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease

Iris Bierschenk, R. Nitschke, S. Grünert, 2020, Frontiers in Endocrinology.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening

S. Grünert, P. Freisinger, L. Hannibal, 2022, Genes.

3-methylcrotonyl-CoA carboxylase deficiency

S. Grünert, S. Kölker, J. Herwig, 2012 .

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

S. Grünert, Irene J. Hoogeveen, F. de Boer, 2021, Journal of inherited metabolic disease.

Health Outcomes of Infants With Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.

S. Grünert, S. Kölker, J. Okun, 2021, The Journal of pediatrics.

Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders

O. Schilling, J. Vockley, J. Hagenbuchner, 2021, International journal of molecular sciences.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

H. Blom, S. Grünert, K. Kahrizi, 2016, Journal of Inherited Metabolic Disease.

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

S. Grünert, J. Sass, R. Santer, 2012, Molecular genetics and metabolism.

The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI

S. Grünert, L. Hannibal, U. Spiekerkoetter, 2021, Genes.

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

T. Haack, S. Grünert, L. Hannibal, 2021, Diagnostics.

Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria

M. Baumgartner, S. Grünert, S. Kölker, 2021, Journal of inherited metabolic disease.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

S. Grünert, J. Sass, T. Derks, 2017, Molecular genetics and metabolism.

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

M. Baumgartner, S. Grünert, M. Landolt, 2019, Orphanet Journal of Rare Diseases.

Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib

S. Wortmann, S. Grünert, T. Derks, 2020, Orphanet Journal of Rare Diseases.

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

S. Grünert, G. Hoffmann, B. Stiller, 2020, Orphanet Journal of Rare Diseases.

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

S. Grünert, J. Sass, 2019, Orphanet Journal of Rare Diseases.

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease- many faces CURRENT STATUS: ACCEPTED

S. Grünert, 2020 .

Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

S. Grünert, B. Vetter, E. Lausch, 2015, BMC Medical Genetics.

Metabolic phenotyping in phenylketonuria reveals disease clustering independently of metabolic control.

S. Grünert, L. Hannibal, U. Spiekerkoetter, 2023, Molecular genetics and metabolism.

Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

S. Grünert, F. Porta, M. Spada, 2021, Journal of inherited metabolic disease.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

S. Grünert, R. Korinthenberg, J. Mayr, 2020, Neuropediatrics.

Unsuccessful intravenous D-mannose treatment in PMM2-CDG

S. Grünert, C. Thiel, T. Marquardt, 2019, Orphanet Journal of Rare Diseases.

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

S. Grünert, J. Sass, A. Superti-Furga, 2011, Brain and Development.

Haematological characteristics and spontaneous haematological recovery in Pearson syndrome

A. Borkhardt, A. Rötig, A. Yoshimi, 2021, British journal of haematology.

Hematological Presentation and Change in Clinical Phenotype during Follow-up in Pearson Syndrome

A. Borkhardt, A. Yoshimi, C. Niemeyer, 2019, Blood.

Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report

A. Heinzmann, S. Grünert, S. Bode, 2021, BMC Pediatrics.

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

M. Schmidts, S. Grünert, E. Lausch, 2021, Diagnostics.

Peritoneal inclusion cyst in a patient with glycogen storage disease type Ib and Crohn’s like disease

S. Grünert, S. Berg, A. Schumann, 2021 .

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

S. Grünert, J. Fischer, C. Has, 2021, Genes.

Disorders of Ketone Body Metabolism and Transport

S. Grünert, J. Sass, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

D-Lactic Acidosis: “Right-Left Disorientation” in Laboratory Testing: Acute Encephalopathy in a Child With Carbohydrate Malabsorption Syndrome

R. Hentschel, M. Schmidts, S. Grünert, 2009, Journal of pediatric gastroenterology and nutrition.

Impaired ketone body utilisation as a cause of life-threatening ketoacidosis

S. Grünert, J. Sass, 2021, Postgraduate Medical Journal.

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

J. Václavík, L. Kluijtmans, R. Wevers, 2020, JIMD reports.

3-hydroxy-3-methylglutaryl-coenzyme A lyase de � ciency : One disease-many faces

S. Grünert, 2021 .

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

S. Grünert, J. Sass, A. Superti-Furga, 2011, Brain & development (Tokyo. 1979).

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

S. Grünert, U. Steuerwald, S. Kölker, 2023, Journal of inherited metabolic disease.