I. Knerr

J. Ganesh, I. Knerr, M. Bennett, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.

P. Rudd, I. Knerr, E. Treacy, 2015, JIMD reports.

Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)

J. Sass, I. Knerr, 2019, Human Pathobiochemistry.

Leptin and ghrelin expression in adipose tissues and serum levels in gastric banding patients

M. Rauh, T. Horbach, W. Rascher, 2006, European journal of clinical investigation.

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders

I. Knerr, C. Klein, D. Karall, 2018, Journal of Inherited Metabolic Disease.

Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia

Emily K. Landis, C. Stoel-Gammon, I. Knerr, 2022, HGG advances.

The natural history of classic galactosemia: lessons from the GalNet registry

S. Waisbren, M. Hochuli, S. Wortmann, 2019, Orphanet Journal of Rare Diseases.

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

I. Knerr, P. Doran, E. Treacy, 2018, Orphanet Journal of Rare Diseases.

Effects of temporary low-dose galactose supplements in children aged 5–12 y with classical galactosemia: a pilot study

P. Rudd, I. Knerr, P. Doran, 2015, Pediatric Research.

Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

I. Knerr, P. Doran, E. Treacy, 2014, Molecular genetics and metabolism.

Leptin levels in children and adults with classic galactosaemia.

I. Knerr, K. Burling, P. Doran, 2012, JIMD reports.

Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

I. Knerr, P. Doran, E. Crushell, 2013, Journal of Inherited Metabolic Disease.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

S. Wortmann, C. Hollak, K. Õunap, 2017, Fertility and sterility.

Friedreich Ataxia in Classical Galactosaemia.

I. Knerr, S. Lynch, E. Crushell, 2015, JIMD reports.

Metabolic decompensation in children with type 1 diabetes mellitus associated with increased serum levels of the soluble leptin receptor.

J. Dötsch, J. Kratzsch, J. Thiery, 2006, European journal of endocrinology.

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

Endocrine Effects of Food Intake: Insulin, Ghrelin, and Leptin Responses to a Single Bolus of Essential Amino Acids in Humans

M. Rauh, W. Rascher, I. Knerr, 2003, Annals of Nutrition and Metabolism.

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.

Relative quantification of HLA-DRA1 and -DQA1 expression by real-time reverse transcriptase-polymerase chain reaction (RT-PCR).

R. Wassmuth, I. Knerr, J. Haas, 2003, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients

I. Knerr, E. Crushell, E. Treacy, 2022, JIMD reports.

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes

E. Jones, I. Knerr, M. King, 2022, Frontiers in Genetics.

Congenital unilateral ureteropelvic junction obstruction of the rat: a useful animal model for human ureteropelvic junction obstruction?

M. Hesse, W. Rascher, I. Knerr, 2004, Urology.

Levothyroxine in euthyroid autoimmune thyroiditis and type 1 diabetes: a randomized, controlled trial.

B. Boehm, I. Knerr, K. Debatin, 2007, The Journal of clinical endocrinology and metabolism.

Tracking and Prediction of Arterial Blood Pressure From Childhood to Young Adulthood in 868 Patients With Type 1 Diabetes

W. Rascher, I. Knerr, A. Dost, 2008, Diabetes Care.

Reduced Frequency of Peripheral Plasmacytoid Dendritic Cells in Type 1 Diabetes

I. Knerr, T. Lohmann, E. Hahn, 2008, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

Mutation analysis in 54 propionic acidemia patients

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

Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake

I. Knerr, A. Coughlan, E. Crushell, 2017, Journal of nutrition and metabolism.

Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis

I. Knerr, E. Crushell, S. Murphy, 2020, JIMD reports.

Response of HEK293 and CHO cells overexpressing fusiogenic syncytin‐1 to mitochondrion‐mediated apoptosis induced by antimycin A

T. Aigner, W. Rascher, I. Knerr, 2008, Journal of cellular biochemistry.

The Leptin System in Patients with Classical Galactosaemia - Putative Role and Clinical Consequences

J. Kratzsch, I. Knerr, E. Treacy, 2015 .

Endocrine responses to the oral ingestion of a physiological dose of essential amino acids in humans.

M. Rauh, W. Rascher, I. Knerr, 2003, The Journal of endocrinology.

Course of placental 11beta-hydroxysteroid dehydrogenase type 2 and 15-hydroxyprostaglandin dehydrogenase mRNA expression during human gestation.

J. Dötsch, R. Repp, W. Rascher, 2001, European journal of endocrinology.

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

J. Dötsch, W. Rascher, I. Knerr, 2005, BMC pediatrics.

Nitric oxide increases adrenomedullin receptor function in rat mesangial cells.

B. Brüne, J. Dötsch, R. Repp, 2002, Kidney international.

Galactokinase deficiency: lessons from the GalNet registry

I. Rivera, P. Verloo, D. Timson, 2020, Genetics in Medicine.

Homocysteine concentrations in a German cohort of 500 individuals: Reference ranges and determinants of plasma levels in healthy children and their parents

M. Rauh, B. Koletzko, H. Dörr, 2001, Amino Acids.

Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels

I. Knerr, A. Coughlan, E. Crushell, 2019, JIMD reports.

Effects of Various Dietary Amino Acid Preparations for Phenylketonuric Patients on the Metabolic Profiles along with Postprandial Insulin and Ghrelin Responses

M. Rauh, W. Rascher, I. Knerr, 2007, Annals of Nutrition and Metabolism.

Maturation of the expression of adrenomedullin, endothelin-1 and nitric oxide synthases in adipose tissues from childhood to adulthood

T. Horbach, J. Dötsch, W. Rascher, 2005, International Journal of Obesity.

Fusiogenic endogenous-retroviral syncytin-1 exerts anti-apoptotic functions in staurosporine-challenged CHO cells

W. Rascher, I. Knerr, U. Meissner, 2006, Apoptosis.

The ‘accelerator hypothesis’: relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus

T. Reinehr, W. Rascher, I. Knerr, 2005, Diabetologia.

Syncytin-1 and Glial Cells Missing a: Hypoxia-Induced Deregulated Gene Expression along with Disordered Cell Fusion in Primary Term Human Trophoblasts

W. Rascher, I. Knerr, C. Wich, 2009, Gynecologic and Obstetric Investigation.

Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditions

T. Aigner, J. Dötsch, K. Amann, 2005, FEBS letters.

Propionic acidemia: neonatal versus selective metabolic screening

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

Initial insulin therapy in children and adolescents with type 1 diabetes mellitus

I. Knerr, A. Dost, R. Holl, 2009, Pediatric diabetes.

Characterization of monocyte-derived dendritic cells in recent-onset diabetes mellitus type 1.

R. Wassmuth, W. Rascher, I. Knerr, 2002, Clinical immunology.

Leptin Expression in Primary Trophoblast Cells in Response to Incubation with the Serum of Preeclamptic Women

R. Schild, J. Dötsch, A. Hartner, 2008, Hypertension in pregnancy.

Increase of endothelial nitric oxide synthase and endothelin-1 mRNA expression in human placenta during gestation.

J. Dötsch, W. Rascher, I. Knerr, 2001, European journal of obstetrics, gynecology, and reproductive biology.

Leptin and neuropeptide Y gene expression in human placenta: ontogeny and evidence for similarities to hypothalamic regulation.

J. Dötsch, R. Repp, W. Rascher, 1999, The Journal of clinical endocrinology and metabolism.

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

J. Sass, I. Knerr, A. Rauch, 2006, Molecular genetics and metabolism.

Disorders of Leucine, Isoleucine, and Valine Metabolism

J. Vockley, K. Gibson, I. Knerr, 2014 .

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1−/− mice and characterization of γ-hydroxybutyric acid pharmacology

O. Snead, O. C. Carter Snead, K. Gibson, 2007, Journal of Inherited Metabolic Disease.

Diagnosis, therapy and control of diabetes mellitus in children and adolescents.

O. Kordonouri, T. Danne, I. Knerr, 2014, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Continual Treatment of Type 1 Diabetes Care of Children in Kindergartens and Schools

O. Kordonouri, T. Danne, I. Knerr, 2014 .

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

I. Knerr, J. Häberle, V. Rüfenacht, 2020, Journal of inherited metabolic disease.

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.

Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis

I. Knerr, R. Watling, M. A. Chaudhri, 2013, Annals of Nutrition and Metabolism.

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

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

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Robert W. Taylor, H. Prokisch, P. Clayton, 2016, Journal of Medical Genetics.

A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT

J. Fridovich-Keil, B. Mendelsohn, I. Knerr, 2022, Journal of inherited metabolic disease.

UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

P. Huppke, I. Knerr, G. Korenke, 2000, Journal of Inherited Metabolic Disease.

A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders

I. Knerr, E. Crushell, A. A. Monavari, 2016, European Journal of Pediatrics.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

Wong, J. Casey, I. Knerr, 2015, Journal of Inherited Metabolic Disease.

Severe, neonatal‐onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)

I. Knerr, M. Zenker, A. Reis, 2005, American journal of medical genetics. Part A.

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

I. Knerr, E. Crushell, J. Hughes, 2022, European Journal of Pediatrics.

Catalogue of inherited disorders found among the Irish Traveller population

J. Casey, A. Green, S. Ennis, 2018, Journal of Medical Genetics.

Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency

W. Yue, S. Banka, G. Zampino, 2019, Journal of inherited metabolic disease.

Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland

I. Knerr, John Allen, B. Power, 2019, JIMD reports.

Syncytin, a novel human endogenous retroviral gene in human placenta: evidence for its dysregulation in preeclampsia and HELLP syndrome.

W. Rascher, I. Knerr, E. Beinder, 2002, American journal of obstetrics and gynecology.

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma

I. Knerr, E. Crushell, N. McSweeney, 2020, JIMD reports.

Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre

I. Knerr, Caoimhe Howard, M. Boyle, 2022, European Journal of Pediatrics.

Transient insulin-dependent diabetes mellitus in children with steroid-dependent idiopathic nephrotic syndrome during tacrolimus treatment

J. Dötsch, W. Rascher, I. Knerr, 2006, Pediatric Nephrology.

Alteration of neuronal and endothelial nitric oxide synthase and neuropeptide Y in congenital ureteropelvic junction obstruction

W. Rascher, I. Knerr, W. Kummer, 2001, Urological Research.

Gene expression of adrenomedullin, leptin, their receptors and neuropeptide Y in hormone‐secreting and non‐functioning pituitary adenomas, meningiomas and malignant intracranial tumours in humans

R. Fahlbusch, M. Buchfelder, J. Dötsch, 2001, Neuropathology and applied neurobiology.

Carnitine Status in Early-Treated Children, Adolescents and Young Adults with Phenylketonuria on Low Phenylalanine Diets

M. Rauh, W. Rascher, I. Knerr, 2008, Annals of Nutrition and Metabolism.

Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

E. Puffenberger, K. Strauss, D. Morton, 2008, American journal of human genetics.

Glutaric aciduria type III: A distinctive non-disease?

W. Rascher, I. Knerr, E. Christensen, 2002, Journal of Inherited Metabolic Disease.

Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment

I. Knerr, J. McNulty, Dearbhla Milner, 2023, Nutrients.

Childhood obesity: concept, feasibility, and interim results of a local group-based, long-term treatment program.

J. Dötsch, W. Rascher, I. Knerr, 2008, Journal of nutrition education and behavior.

N-glycan abnormalities in children with galactosemia.

Pauline M Rudd, Barbara Adamczyk, Henning Stöckmann, 2014, Journal of proteome research.

[Obesity and the metabolic syndrome in children and adolescents].

I. Knerr, 2004, MMW, Fortschritte der Medizin.

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience

N. Murphy, C. McDonnell, I. Knerr, 2022, Journal of clinical medicine.

Expression of Neuropeptide Y, Omentin and Visfatin in Visceral and Subcutaneous Adipose Tissues in Humans: Relation to Endocrine and Clinical Parameters

M. Rauh, T. Horbach, J. Dötsch, 2010, Obesity Facts.

Adrenomedullin, calcitonin gene-related peptide and their receptors: evidence for a decreased placental mRNA content in preeclampsia and HELLP syndrome.

J. Dötsch, R. Repp, W. Rascher, 2002, European journal of obstetrics, gynecology, and reproductive biology.

Comparison of methylene blue, riboflavin, and N‐acetylcysteine for the reduction of nitric oxide‐induced methemoglobinemia

J. Dötsch, R. Repp, W. Rascher, 2000, Critical care medicine.

Differential regulation of leptin synthesis in rats during short-term hypoxia and short-term carbon monoxide inhalation.

J. Dötsch, W. Rascher, I. Knerr, 2005, Endocrinology.

Hematologic Features and Clinical Course of an Infant With Pearson Syndrome Caused by a Novel Deletion of Mitochondrial DNA

I. Baumann, C. Niemeyer, R. Repp, 2003, Journal of pediatric hematology/oncology.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

B. V. van Bon, R. Pfundt, L. Armengol, 2023, The Journal of clinical investigation.

Quantitation of Gene Expression by Real-Time PCR Disproves a “Retroviral Hypothesis” for Childhood-Onset Diabetes Mellitus

J. Dötsch, R. Repp, W. Rascher, 1999, Pediatric Research.

Night-time only insulin pump therapy in young children with type 1 diabetes mellitus

I. Knerr, S. Razeghi, C. Plank, 2002 .

Laparoscopically Performed Gastric Banding in a 13 Year-old Girl with Morbid Obesity and End Stage Renal Insufficiency Allows Lifesaving Weight Loss and Hemodialysis

T. Horbach, J. Dötsch, W. Rascher, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Ornithine transcarbamylase deficiency: A diagnostic odyssey

D. Cassiman, I. Knerr, 2022, Journal of inherited metabolic disease.

Amino Acids and Inherited Amino Acid-Related Disorders

J. Sass, I. Knerr, E. Crushell, 2018, Journal of nutrition and metabolism.

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT ‐related mitochondrial disease

I. Knerr, Caoimhe Howard, D. O'Rourke, 2022, JIMD Reports.

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.

P. Rudd, I. Knerr, M. Fitzgibbon, 2015, JIMD reports.

Expression of Neuropeptide Y, Omentin and Visfatin in Visceral and Subcutaneous Adipose Tissues in Humans: Relation to Endocrine and Clinical Parameters

M. Rauh, T. Horbach, J. Dötsch, 2010, Obesity Facts.

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.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

H. Prokisch, P. Clayton, I. Knerr, 2016, Journal of Medical Genetics.

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

I. Knerr, P. Pearl, C. Jakobs, 2010, Pediatric neurology.

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

J. Casey, I. Knerr, E. Crushell, 2015, Journal of Inherited Metabolic Disease.