J. Hennermann

发表

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.

P. Fernhoff, B. Burton, A. Chakrapani, 2011, Molecular genetics and metabolism.

Antibody Epitope of Human α‐Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease

M. Przybylski, A. Papini, Z. Kukačka, 2018, ChemMedChem.

Phenylketonuria and hyperphenylalaninemia in eastern Germany: A characteristic molecular profile and 15 novel mutations

A. Kulozik, C. Wolf, J. Hennermann, 2000, Human mutation.

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

D. Ardigò, C. Hendriksz, A. Lund, 2018, Molecular genetics and metabolism.

Year : 2011 Diagnosis , classification , and genetics of phenylketonuria and tetrahydrobiopterin ( BH 4 ) deficiencies

N. Blau, U. Lichter-Konecki, J. Hennermann, 2017 .

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

N. Blau, U. Lichter-Konecki, J. Hennermann, 2011, Molecular genetics and metabolism.

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.

N. Blau, C. Bührer, J. Hennermann, 2005, Molecular genetics and metabolism.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

S. Diederich, Y. Amraoui, M. Smitka, 2019, The Journal of pediatrics.

Unknown pathomechanisms of renal impairment in PKU

U. Querfeld, J. Hennermann, 2013, Journal of Inherited Metabolic Disease.

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

A. Lund, A. Tylki-Szymańska, N. Guffon, 2020, Orphanet Journal of Rare Diseases.

Retinal thinning in phenylketonuria and Gaucher disease type 3

N. Pfeiffer, A. Schuster, J. Hennermann, 2021, Graefe's Archive for Clinical and Experimental Ophthalmology.

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency

A. Grüters, J. Hennermann, J. Gellermann, 2009, Journal of Inherited Metabolic Disease.

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.

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.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

Prediction of long-term outcome in glycine encephalopathy: a clinical survey

G. Scharer, J. Hennermann, U. Grieben, 2012, Journal of Inherited Metabolic Disease.

Benzoate treatment and the glycine index in nonketotic hyperglycinaemia

J. Jaeken, J. Hennermann, P. Kishnani, 2005, Journal of Inherited Metabolic Disease.

Nonketotic hyperglycinemia and epilepsy

J. Hennermann, 2014, Journal of Pediatric Epilepsy.

Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).

C. Sommer, P. Nordbeck, T. Duning, 2022, European heart journal. Cardiovascular pharmacotherapy.

Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS).

C. Sommer, P. Nordbeck, T. Duning, 2021, European heart journal. Cardiovascular pharmacotherapy.

Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.

J. Hennermann, E. Mönch, B. Vetter, 2012, Molecular genetics and metabolism.

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.

J. Vockley, B. Burton, N. Longo, 2009, The Journal of pediatrics.

Biventricular strain assessment indicates progressive impairment of myocardial contractility in phenotypically negative patients with Fabry's disease.

K. Kreitner, A. Varga-Szemes, T. Emrich, 2022, European journal of radiology.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

Mortality in patients with alpha-mannosidosis: a review of patients’ data and the literature

Eva M. Raebel, A. Ballabeni, M. Jacquemont, 2022, Orphanet Journal of Rare Diseases.

Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity.

J. König, C. Düber, A. Lollert, 2020, Molecular genetics and metabolism.

Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study

P. Heuschmann, D. Lorenz, M. de Greck, 2021, Orphanet Journal of Rare Diseases.

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.

A. Lund, A. Tylki-Szymańska, R. Parini, 2019, Molecular genetics and metabolism.

Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy

W. März, H. Böhles, J. Hennermann, 1998, European Journal of Pediatrics.

Mutation analysis in 54 propionic acidemia patients

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

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome)

E. Mengel, J. Hennermann, C. Kampmann, 2016, PloS one.

Impact of immunosuppressive therapy on therapy‐neutralizing antibodies in transplanted patients with Fabry disease

C. Wanner, P. Nordbeck, C. Drechsler, 2017, Journal of internal medicine.

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

J. Stypmann, C. Wanner, F. Weidemann, 2016, Orphanet Journal of Rare Diseases.

Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice

J. Hennermann, S. Gehring, N. Horscroft, 2022, Frontiers in Bioengineering and Biotechnology.

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

J. Hennermann, Julia B. Hennermann, Peter Schadewaldt, 2011, Journal of Inherited Metabolic Disease.

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

C. Baerwald, K. Parhofer, F. Rutsch, 2020, Annals of Nutrition and Metabolism.

Issues with European guidelines for phenylketonuria.

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

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

B. Neubauer, A. Hahn, J. Kirschner, 2021, Neuropediatrics.

Diagnosis and Care of Infants and Children with Pompe Disease

T. Marquardt, M. Huemer, M. Rohrbach, 2020, Klinische Pädiatrie.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

N. Karabul, T. Marquardt, R. Santer, 2015, JIMD reports.

A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient

T. Suormala, P. Nürnberg, M. Toliat, 2010, Journal of Inherited Metabolic Disease.

Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease

U. Schoepf, K. Kreitner, A. Varga-Szemes, 2022, European Radiology.

Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients.

M. Brockmann, J. Hennermann, Stefanie Kirschner, 2017, European journal of radiology.

E. Seifritz, F. Beuschlein, Y. Winter, 2021 .

DDDT_A_249433 2149..2158

U. Ramaswami, N. Karabul, G. Pintos-Morell, 2020 .

Propionic acidemia: neonatal versus selective metabolic screening

M. Baumgartner, T. Suormala, S. Grünert, 2012, 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.

Pharmacokinetics, pharmacodynamics, and safety of moss‐aGalactosidase A in patients with Fabry disease

A. Busch, T. Frischmuth, G. Fekete, 2019, Journal of inherited metabolic disease.

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

D. Frank, J. Okun, B. Straub, 2022, Molecular therapy. Methods & clinical development.

Clinical variability in glycine encephalopathy

J. Hennermann, O. Heubner, 2006 .

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation

B. Maecker-Kolhoff, L. Grigull, R. Beier, 2022, JIMD reports.

Nonketotic Hyperglycinemia (Glycine Encephalopathy ) and Lipoate Deficiency Disorders

J. Hennermann, C. Coughlin, J. Hove, 2016 .

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.

Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature

D. Wieczorek, A. Kaindl, N. Didonato, 2014, Developmental medicine and child neurology.

Neuropädiatrische Differenzialdiagnostik der Mikrozephalie im Kindesalter

H. von Bernuth, A. Kaindl, B. Spors, 2016, medizinische genetik.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, 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.

Symmetrical inflammatory erosive plaques and blisters in an infant

U. Blume-Peytavi, A. Vogt, J. Hennermann, 2017, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

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

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

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil

C. Hendriksz, D. Hughes, E. Teles, 2021, Journal of inherited metabolic disease.

The SPARKLE registry: a multicenter, multinational, noninterventional, prospective cohort registry study in patients with alpha-mannosidosis

A. Lund, A. Tylki-Szymańska, N. Guffon, 2019 .

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

N. Stence, S. Wortmann, J. V. Van Hove, 2019, Journal of inherited metabolic disease.

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

H. Szerlong, G. Matthijs, J. V. Van Hove, 2015, Annals of neurology.

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

C. Sommer, P. Nordbeck, T. Duning, 2020, Clinical pharmacology and therapeutics.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

C. Vrinten, G. Ceccarini, A. Federico, 2020, Orphanet Journal of Rare Diseases.

Identification and Affinity Determination of Protein-Antibody and Protein-Aptamer Epitopes by Biosensor-Mass Spectrometry Combination

M. Przybylski, F. Völklein, W. Kleinekofort, 2021, International journal of molecular sciences.

The cardiovascular phenotype of adult patients with phenylketonuria

U. Querfeld, J. Hennermann, M. van der Giet, 2019, Orphanet Journal of Rare Diseases.

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

B. Ylstra, L. Zoetekouw, R. Hennekam, 2009, Human Genetics.

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

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

An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed by Newborn Screening

A. Söling, A. Kulozik, L. Neumann, 2002, Pediatric Research.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

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

[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children].

J. Hennermann, G. Horneff, P. Müller, 2007, Klinische Padiatrie.

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.

K. Lackner, H. Rossmann, E. Mengel, 2020, Molecular genetics and metabolism.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

F. Wong, J. Christodoulou, T. Derks, 2015, The Lancet.

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

L. Zoetekouw, R. Hennekam, J. Bierau, 2010, Nucleosides, nucleotides & nucleic acids.

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.

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening

G. Hoffmann, G. Gramer, J. Hennermann, 2021, Molecular genetics and metabolism reports.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1

C. Düber, A. Lollert, G. Staatz, 2018, Klinische Pädiatrie.

Neonatal manifestation of multiple sulfatase deficiency

D. Horn, T. Dierks, J. Hennermann, 2009, European Journal of Pediatrics.

Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria

J. Hennermann, A. Weber, E. Mönch, 2004, Journal of perinatal medicine.

Sphingolipidosen

J. Hennermann, 2020, Pädiatrie.

Chronic kidney disease in adolescent and adult patients with phenylketonuria

U. Querfeld, J. Hennermann, U. Plöckinger, 2013, Journal of Inherited Metabolic Disease.

Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C

N. Pfeiffer, A. Schuster, J. Hennermann, 2021, PloS one.

Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis

W. Baumgärtner, H. Naim, F. Felmy, 2020, Journal of clinical medicine.

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study

E. Schuchman, E. Mengel, J. Hennermann, 2016, Journal of Inherited Metabolic Disease.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

I. Schmidtmann, N. Pfeiffer, J. Hennermann, 2019, Orphanet Journal of Rare Diseases.

Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

N. Karabul, T. Hundsberger, M. Huemer, 2019, JIMD reports.

Effect of velmanase alfa (human recombinant alpha-mannosidase) enzyme-replacement therapy on quality of life and disease burden of patients with alpha-mannosidosis: Results from caregiver feedback

A. Tylki-Szymańska, B. Héron, N. Guffon, 2021 .

Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study

A. Ballabeni, A. Lund, N. Guffon, 2023, Journal of inherited metabolic disease.

Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease

A. Fellgiebel, J. Hennermann, A. Böttcher, 2015, PloS one.

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age

U. Ramaswami, N. Karabul, G. Pintos-Morell, 2020, Drug design, development and therapy.

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

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

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

J. Hennermann, K. Ullrich, S. Breyer, 2019, Orphanet Journal of Rare Diseases.

Retinal and optic nerve degeneration in α-mannosidosis

J. Hennermann, S. Pitz, J. Matlach, 2018, Orphanet Journal of Rare Diseases.

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis

A. Hermann, M. von der Hagen, J. Hennermann, 2021, Journal of Neurology.

Screening for health-related quality of life and its determinants in Fabry disease: A cross-sectional multicenter study.

Y. Winter, J. Hennermann, A. Nowak, 2023, Molecular Genetics and Metabolism.

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

T. Suormala, L. Vilarinho, J. Zeman, 2005, Human mutation.

Saccadic reaction time and ocular findings in phenylketonuria

I. Schmidtmann, N. Pfeiffer, J. Hennermann, 2020, Orphanet Journal of Rare Diseases.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

T. Haaf, E. Klopocki, W. Shehata-Dieler, 2014, Clinical genetics.

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.

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

M. Smitka, J. Hennermann, N. Muschol, 2023, Journal of neuromuscular diseases.

Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

B. Thurberg, J. Hennermann, P. Mabe, 2023, Orphanet Journal of Rare Diseases.

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.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.

P. Jayakar, J. Hennermann, N. Muschol, 2024, Molecular genetics and metabolism.

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

D. Ardigò, A. Lund, A. Tylki-Szymańska, 2020, Molecular genetics and metabolism reports.

Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial

R. Schiffmann, P. Minini, P. Mistry, 2022, Brain : a journal of neurology.