P. Burgard

发表

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

M. Baumgartner, A. Gropman, M. Yudkoff, 2019, Annals of neurology.

Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

A. Rupp, P. Burgard, U. Lichter-Konecki, 2009, European Journal of Pediatrics.

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.

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

S. Kölker, J. Okun, P. Burgard, 2013, Journal of Inherited Metabolic Disease.

Long-term follow-up of 114 patients with congenital hyperinsulinism.

E. Mayatepek, T. Meissner, P. Burgard, 2003, European journal of endocrinology.

Diagnosis and management of glutaric aciduria type I – revised recommendations

M. Durán, C. Greenberg, E. Christensen, 2011, Journal of Inherited Metabolic Disease.

Looking forward—An evidence-based approach to glutaryl-CoA dehydrogenase deficiency

C. Greenberg, S. Kölker, J. Okun, 2004, Journal of Inherited Metabolic Disease.

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

A. Ribes, M. Wajner, B. Merinero, 2006, Pediatric Research.

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

M. Durán, R. Surtees, C. Greenberg, 2007, Journal of Inherited Metabolic Disease.

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

M. Leichsenring, G. Hoffmann, M. Lindner, 2011, Orphanet journal of rare diseases.

Genotype-phenotype correlations in phenylketonuria.

P. Burgard, U. Lichter-Konecki, D. Konecki, 1993, Clinica chimica acta; international journal of clinical chemistry.

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

S. Kölker, G. Hoffmann, P. Burgard, 2015, Orphanet Journal of Rare Diseases.

No evidence for individual blood–brain barrier phenylalanine transport to influence clinical outcome in typical phenylketonuria patients

R. Kreis, C. Boesch, A. Rupp, 2002, Annals of neurology.

Intelligence and professional career in young adults treated early for phenylketonuria

A. Rupp, P. Burgard, H. Schmidt, 2009, European Journal of Pediatrics.

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997

H. Bremer, P. Burgard, F. Trefz, 1999, European Journal of Pediatrics.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.

M. Baumgartner, M. Landolt, S. Kölker, 2017, JIMD reports.

Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test

J. Zschocke, M. Lindner, P. Burgard, 2009, Journal of Inherited Metabolic Disease.

Critical evaluation of the methodology employed in cognitive development trials

P. Burgard, 2003, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Transcultural pediatrics: Compliance and outcome of phenylketonuria patients from families with an immigration background

S. Stöckler‐Ipsiroglu, P. Burgard, H. Bode, 2005, Wiener klinische Wochenschrift.

Growth and skeletal maturation in children with phenylketonuria

A. Rupp, H. Bremer, P. Burgard, 1994, Acta paediatrica.

Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values

N. Blau, J. Okun, G. Hoffmann, 2010, Journal of Inherited Metabolic Disease.

Use of guidelines improves the neurological outcome in glutaric aciduria type I

I. Harting, J. Zschocke, S. Kölker, 2010, Annals of neurology.

Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level.

A. Rupp, L. D. de Sonneville, L. Sonneville, 1994, Journal of clinical and experimental neuropsychology.

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

M. Baumgartner, S. Parker, A. Chakrapani, 2015, JIMD reports.

Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination

S. Kölker, G. Hoffmann, M. Lindner, 2008, Journal of Inherited Metabolic Disease.

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

J. Zschocke, S. Kölker, G. Hoffmann, 2007, Pediatric Research.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

E. Mayatepek, J. Zschocke, M. Lindner, 2001, Molecular genetics and metabolism.

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control

M. Lindner, P. Burgard, S. Garbade, 2009, Journal of Inherited Metabolic Disease.

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia

M. Lindner, P. Burgard, S. Garbade, 2007, Journal of Inherited Metabolic Disease.

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

E. Mayatepek, J. Zschocke, A. Schulze, 2003, Human mutation.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

S. Kölker, P. Burgard, A. Lund, 2019, Journal of inherited metabolic disease.

Psychological and social findings in adolescents with phenylketonuria

B. Wilken, P. Burgard, J. Weglage, 1992, European Journal of Pediatrics.

Development of intelligence in early treated phenylketonuria

P. Burgard, 2000, European Journal of Pediatrics.

Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria

A. Rupp, P. Burgard, E. Schmidt, 1994, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Robert W. Taylor, T. Wieland, I. Harting, 2016, Journal of Inherited Metabolic Disease.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, N. Ah Mew, S. Kölker, 2018, Journal of inherited metabolic disease.

Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.

J. Loeber, M. Cornel, S. Kölker, 2016, JIMD reports.

Structured Communication and Behavioural Medicine

P. Burgard, 2017 .

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

M. Baumgartner, À. García‐Cazorla, J. Zeman, 2016, Journal of Inherited Metabolic Disease.

Issues with European guidelines for phenylketonuria.

M. Langeveld, C. Hollak, R. Lachmann, 2017, The lancet. Diabetes & endocrinology.

Family conditions and dietary control in IEMs

P. Burgard, 2007, Journal of Inherited Metabolic Disease.

Survey of national guidelines for the treatment of phenylketonuria

P. Burgard, S. Schweitzer-Krantz, 2000, European Journal of Pediatrics.

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.

Comparison of different indices of dietary control in phenylketonuria

A. Rupp, P. Burgard, 1995, Acta paediatrica.

Psychiatric disorders in adult patients with early-treated phenylketonuria.

P. Burgard, B. Fätkenheuer, H. Schmidt, 1997, Pediatrics.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

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.

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

S. Kölker, G. Hoffmann, P. Burgard, 2013, Journal of Inherited Metabolic Disease.

Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

G. Hoffmann, M. Lindner, P. Burgard, 2013, Molecular genetics and metabolism.

Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

G. Hoffmann, M. Lindner, P. Burgard, 2014, Journal of Inherited Metabolic Disease.

Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of Age.

J. Zschocke, P. Burgard, U. Langenbeck, 2015, JIMD reports.

The art of dissimulation: caravaggio''s ''Calling of St. Matthew''

P. Burgard, 1998 .

Literary History and Historical Truth Herder — “Shakespeare” — Goethe

P. Burgard, 1991 .

Nietzsche and The Feminine

P. Burgard, 1995 .

Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis

P. Burgard, S. Garbade, Julia Albrecht, 2009, Neuroscience & Biobehavioral Reviews.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Johannes Zschocke, Thomas Opladen, I. Harting, 2017, Journal of Inherited Metabolic Disease.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

C. Greenberg, A. Schlune, S. Kölker, 2012, Molecular genetics and metabolism.

Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

S. Kölker, J. Okun, P. Burgard, 2015 .

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

S. Kölker, J. Okun, P. Burgard, 2015, Biochimica et biophysica acta.

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

A. Ribes, C. Greenberg, S. Kölker, 2014, Journal of Inherited Metabolic Disease.

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years

S. Kölker, G. Hoffmann, M. Lindner, 2016, Journal of Inherited Metabolic Disease.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders

J. Poeschl, S. Kölker, G. Hoffmann, 2019, Orphanet Journal of Rare Diseases.

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

S. Waisbren, R. McCarter, S. Kölker, 2019, Journal of inherited metabolic disease.

In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.

B. Burton, M. Yudkoff, Aneal Khan, 2016, Molecular genetics and metabolism.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

P. Guldberg, I. Dianzani, V. Romano, 1998, American journal of human genetics.

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

M. Baumgartner, T. Suormala, E. R. Baumgartner, 2007, Pediatric Research.

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

A. Schulze, J. Okun, G. Hoffmann, 2014, Gene.

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

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

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

Luciano Vittozzi, Georg F. Hoffmann, Kathrin Rupp, 2012, Journal of Inherited Metabolic Disease.

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

D. Taruscio, J. Loeber, M. Cornel, 2012, Journal of Inherited Metabolic Disease.

The truth of treating patients with phenylketonuria after childhood: The need for a new guideline

P. Burgard, F. J. Spronsen, Van Spronsen, 2008, Journal of Inherited Metabolic Disease.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, S. Kölker, R. Posset, 2018, Journal of inherited metabolic disease.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Thomas Meitinger, Julien Gagneur, Holger Prokisch, 2015, American journal of human genetics.

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

Domenica Taruscio, Luciano Vittozzi, Kathrin Rupp, 2013, European Journal of Human Genetics.

The Role of Communication in the Treatment of Inborn Metabolic Diseases

P. Burgard, U. Wendel, 2006 .

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

C. Bartram, G. Hoffmann, M. Lindner, 2015, JIMD reports.

The Cross-Cultural Assessment of Normative Concepts: Some Considerations on the Affinity between Methodological Approaches and Preferred Theories

L. H. Eckensberger, P. Burgard, 1983 .

Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation

N. Blau, J. Okun, G. Hoffmann, 2021, Metabolites.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

K. Scheffler, D. Berg, C. Zipser, 2019, Journal of inherited metabolic disease.

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

S. Listl, S. Kölker, G. Hoffmann, 2013, Orphanet Journal of Rare Diseases.

An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

C. Klein, H. Krude, F. Hauck, 2021, Orphanet Journal of Rare Diseases.

A Holistic Approach to the Patients/ Families with Inborn Errors of Metabolism

P. Burgard, 2020, Journal of mother and child.

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

J. Sass, W. Nyhan, J. Okun, 2006, Clinical chemistry.

Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–Lemli–Opitz (RSH) Syndrome

G. Hoffmann, P. Burgard, D. Haas, 2013, American journal of medical genetics. Part A.

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

J. Zschocke, G. Hoffmann, P. Burgard, 2007, Journal of Inherited Metabolic Disease.

Transition for adolescents with a rare disease: results of a nationwide German project

A. Grüters, H. Krude, F. Hauck, 2023, Orphanet Journal of Rare Diseases.

Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia

S. Kölker, P. Burgard, Gisela Haege, 2014, Journal of Inherited Metabolic Disease.

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

S. Kölker, P. Burgard, F. Hörster, 2012, Journal of Inherited Metabolic Disease.

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

S. Waisbren, S. Cederbaum, R. McCarter, 2018, Journal of Inherited Metabolic Disease.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.

J. Okun, G. Hoffmann, P. Burgard, 2016, JIMD reports.

ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus

S. Waisbren, A. Brandis, Alon Chen, 2019, Cell reports.

Idioms of Uncertainty: Goethe and the Essay

P. Burgard, 1992 .

The reality of dietary compliance in the management of phenylketonuria

P. Burgard, A. Macdonald, M. Rijn, 2010, Journal of Inherited Metabolic Disease.

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

N. Blau, G. Hoffmann, P. Burgard, 2018, Genetics in Medicine.

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

N. Blau, P. Burgard, S. Garbade, 2018, Genetics in Medicine.

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study

E. Reischl, B. Koletzko, P. Burgard, 2018, Nutrients.

Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria.

G. Hoffmann, P. Burgard, C. Langhans, 2016, Prostaglandins, leukotrienes, and essential fatty acids.

Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria

A. Rupp, P. Burgard, E. Schmidt, 2009, European Journal of Pediatrics.

Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria

A. Rupp, H. Bremer, P. Burgard, 2009, European Journal of Pediatrics.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Neuropsychologic Functions of Early Treated Patients with Phenylketonuria, on and off Diet: Results of a Cross-National and Cross-Sectional Study

A. Rupp, P. Burgard, V. Abadie, 1997, Pediatric Research.

Children's representations of economic inequality: A replication

G. Jahoda, W. Cheyne, P. Burgard, 1989 .

Executive Report to the European Commission on newborn screening in the European Union

D. Taruscio, J. Loeber, M. Cornel, 2011 .

Lessing’s Tragic Topography: The Rejection of Society and its Spatial Metaphor in Philotas

P. Burgard, 1987 .

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype

M. Tuchman, M. Baumgartner, S. Waisbren, 2021, Human Genetics.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

I. Harting, C. Greenberg, J. Zschocke, 2017, Journal of Inherited Metabolic Disease.