C. Lampe

发表

Practical management of behavioral problems in mucopolysaccharidoses disorders.

S. Jones, D. Horovitz, M. Escolar, 2017, Molecular genetics and metabolism.

Measuring corneal clouding in patients suffering from mucopolysaccharidosis with the Pentacam densitometry programme

H. Elflein, T. Hofherr, M. Beck, 2013, British Journal of Ophthalmology.

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

C. Hendriksz, K. Stepien, C. Lampe, 2020, Orphanet Journal of Rare Diseases.

The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy

R. Giugliani, B. Bigger, M. Scarpa, 2022, Frontiers in Pharmacology.

Mucopolysaccharidoses and other lysosomal storage diseases.

N. Karabul, M. Scarpa, C. Bellettato, 2013, Rheumatic diseases clinics of North America.

The Burden Endured by Caregivers of Patients With Morquio A Syndrome Results From an International Patient-Reported Outcomes Survey

C. Hendriksz, C. Lavery, Mohit J. Jain, 2014 .

Patient-Reported Outcomes Survey The Burden Endured by Caregivers of Patients With Morquio A Syndrome : Results From an International

C. Hendriksz, C. Lavery, Mohit J. Jain, 2014 .

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

L. de Meirleir, J. Zeman, A. Broomfield, 2018, Acta paediatrica.

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

J. H. van der Lee, K. White, R. Sakkers, 2013, Orphanet Journal of Rare Diseases.

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers

D. Zafeiriou, Z. Gucev, I. Pećin, 2021, Orphanet Journal of Rare Diseases.

Alterations in speech and voice in patients with mucopolysaccharidoses

A. Keilmann, C. Lampe, Todsaporn Nakarat, 2014, Logopedics, phoniatrics, vocology.

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

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

Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries

Z. Gucev, B. Kieć-Wilk, A. Tylki-Szymańska, 2022, Orphanet Journal of Rare Diseases.

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy

M. Beck, E. Mengel, E. Miebach, 2014, Journal of Inherited Metabolic Disease.

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series

E. Mengel, E. Miebach, C. Kampmann, 2012, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

L. de Meirleir, J. Zeman, P. Hensman, 2011, Orphanet journal of rare diseases.

Attenuated mucopolysaccharidosis: are you missing this debilitating condition?

C. Lampe, 2012, Rheumatology.

Transition of patients with mucopolysaccharidosis from paediatric to adult care

C. Hendriksz, K. Stepien, C. Lampe, 2019, Molecular genetics and metabolism reports.

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study

R. Giugliani, P. Harmatz, N. Guffon, 2018 .

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study

R. Giugliani, P. Harmatz, N. Guffon, 2014, American journal of medical genetics. Part A.

Social and medical needs of rare metabolic patients: results from a MetabERN survey

C. Bellettato, C. Lampe, L. Paneghetti, 2021, Orphanet Journal of Rare Diseases.

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

T. Tangeraas, B. Kieć-Wilk, N. Belmatoug, 2021, Frontiers in Medicine.

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

C. Hendriksz, M. Riera, K. Stepien, 2019, Orphanet Journal of Rare Diseases.

The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys

C. Dionisi-Vici, C. Brown, M. Scarpa, 2020, Orphanet Journal of Rare Diseases.

Milde Mukopolysaccharidose-Formen

C. Bellettato, C. Lampe, M. Scarpa, 2016, Aktuelle Rheumatologie.

Comparison of Rebound Tonometry, Perkins Applanation Tonometry and Ocular Response Analyser in Mucopolysaccharidosis Patients

J. Lamparter, H. Elflein, J. Wasielica-Poslednik, 2015, PloS one.

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

J. Armstrong, A. Ormazabal, R. Artuch, 2015, Orphanet Journal of Rare Diseases.

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

L. de Meirleir, J. Zeman, A. Lund, 2018, Acta paediatrica.

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Julie A. Johnson, E. Teles, P. Harmatz, 2019, Molecular genetics and metabolism.

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Robert A. Matousek, T. Cole, C. Hendriksz, 2017, Molecular genetics and metabolism.

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Laurie D. Smith, B. Burton, R. Giugliani, 2014, JIMD reports.

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

K. White, C. Hendriksz, W. Mackenzie, 2013, Journal of Inherited Metabolic Disease.

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

B. Burton, K. White, R. Giugliani, 2012, Molecular genetics and metabolism.

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)

R. Steiner, C. Hendriksz, R. Giugliani, 2013, Journal of Inherited Metabolic Disease.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy

S. Kapoor, C. Ferreira, S. Ozen, 2020, Human mutation.

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.

The ethical framework for performing research with rare inherited neurometabolic disease patients

V. Giannuzzi, F. Bonifazi, A. Ceci, 2017, European Journal of Pediatrics.

C. Hendriksz, J. Gold, P. Orchard, 2016, Orphanet Journal of Rare Diseases.

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

B. Burton, K. White, P. Tanpaiboon, 2014, Skeletal Radiology.

Surgical management of neurological manifestations of mucopolysaccharidosis disorders.

P. Harmatz, T. Alden, L. Vedolin, 2017, Molecular genetics and metabolism.

Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome).

C. Möllmann, P. Harmatz, W. Müller-Forell, 2013, JIMD reports.

Illness Perception and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany

Hansjörg Dilger, U. Plöckinger, L. Bošanská, 2013, PloS one.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

B. Burton, R. Steiner, R. Giugliani, 2010, Genetics in Medicine.

Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses

A. Keilmann, C. Lampe, A. Läßig, 2015, The Journal of Laryngology & Otology.

Spinal cord issues in adult patients with MPS: transition of care survey

K. White, R. Giugliani, P. Harmatz, 2018, Child's Nervous System.

Cervical cord compression in mucopolysaccharidosis VI (MPS VI): Findings from the MPS VI Clinical Surveillance Program (CSP).

C. Hendriksz, P. Harmatz, N. Guffon, 2016, Molecular genetics and metabolism.

Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): 15 year follow-up from the survey study

R. Giugliani, P. Harmatz, N. Guffon, 2017 .

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery

P. Harmatz, W. Müller-Forell, E. Mengel, 2013, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Julie A. Johnson, E. Teles, P. Harmatz, 2019, Journal of inherited metabolic disease.

Advances in Mucopolysaccharidoses

C. Lampe, A. Montaño, S. Kircher, 2018 .

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system.

D. Begley, M. Scarpa, C. Bellettato, 2015, Best practice & research. Clinical endocrinology & metabolism.

Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey

John J. Mitchell, K. White, F. Stewart, 2018 .

Lysosomale Speichererkrankungen: Herausforderungen bei der sektorübergreifenden, multiprofessionellen Patientenversorgung mit Enzymersatztherapie

A. Das, M. Scarpa, M. Beck, 2017, Klinische Pädiatrie.

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

H. Runz, N. Karabul, M. Beck, 2012, Orphanet Journal of Rare Diseases.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

B. Burton, R. Giugliani, N. Mendelsohn, 2014, Journal of Inherited Metabolic Disease.

Two Siblings with D-Bifunctional Protein Deficiency and Unusual Clinical Course

M. Knuf, C. Lampe, W. Schrank, 2017, Neuropediatrics.

RETRACTED: An Innovative Tool for Evidence-Based, Personalized Treatment Trials in Mucopolysaccharidosis

R. Giugliani, B. Bigger, M. Scarpa, 2023, Pharmaceutics.

Burden of disease suffered by patients with Morquio syndrome type A: results from a patient-reported outcomes survey

C. Hendriksz, C. Lavery, Mohit J. Jain, 2014 .

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

C. Hendriksz, C. Lavery, Mohit J. Jain, 2014, Orphanet Journal of Rare Diseases.

Mucopolysaccharidoses and Orthopedic Management (Focused also on Craniocervical Junction)

C. Lampe, Christian Lampe, C. Lampe, 2018, Journal of Child Science.

Stand-alone craniocervical decompression is feasible in children with mucopolysaccharidosis type I, IVA, and VI.

P. Horn, M. Knuf, H. Krenzlin, 2018, The spine journal.

Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

Christina Lampe, Eugen Mengel, A. Olaye, 2015 .

Mucopolysaccharidosis type VI enzyme replacement therapy initiated in adulthood: Findings from the MPS VI clinical surveillance program

Julie A. Johnson, E. Teles, P. Harmatz, 2018 .

Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic

C. Baerwald, C. Niederau, S. vom Dahl, 2021, Zeitschrift für Gastroenterologie.