Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry’s disease
Lund N, Wieboldt H, Fischer L, Muschol N, Braun F, Huber T, Sorriento D, Iaccarino G, Muellerleile K, Tahir E, Adam G, Kirchhof P, Fabritz L, Patten M
FRONT CARDIOVASC MED. 2024;11(11):1355033.

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Pfrimmer C, Smitka M, Muschol N, Husain R, Huemer M, Hennermann J, Schuler R, Hahn A
J NEUROMUSCULAR DIS. 2024;11(1):167-177.

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer L, Täuber K, Perez A, Dohrmann T, Denecke J, Santer R, Blümlein U, Ozga A, Pohl S, Muschol N
J CLIN MED. 2023;12(12):.

Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain
Avanesov M, Asgari A, Muschol N, Köhn A, Tahir E, Adam G, Kirchhof P, Lund G, Cavus E, Patten M
SCI REP-UK. 2023;13(1):5809.

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer S, Haas F, Wong M, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting S, Muntau A, Kretz O, Hahn O, Rinschen M, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti H, Najafian B, Puelles V, Schell C, Huber T
J CLIN INVEST. 2023;133(11):.

Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene
Förster L, Tiede S, Rudolph C, Muschol N
MOL GENET METAB. 2023;138(2):.

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
Guffon N, Konstantopoulou V, Hennermann J, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A
J INHERIT METAB DIS. 2023;46(4):705-719.

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez M, Couce M, Lin S, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz A, Maricich S, Kuca B, Kovalchin J, Zanelli E
J CLIN INVEST. 2023;133(2):.

Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic
Niederau C, Regenbogen C, Fruehauf H, Merkel M, Ziagaki A, Mengel E, Baerwald C, Muschol N, Staufner C, Lampe C, Gillessen A, Koehler J, Vom Dahl S
Z GASTROENTEROL. 2023;61(4):375-380.

Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel E, von Kroge S, Matthies L, Köhne T, Petz K, Beikler T, Schmid-Herrmann C, Kahl-Nieke B, Tsiakas K, Santer R, Muschol N, Herrmann J, Busse B, Amling M, Rolvien T, Jandl N, Barvencik F
CALCIFIED TISSUE INT. 2023;112(3):308-319.

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer L, Muschol N, Santer R, Lang A, Breyer S, Sasu P, Petzoldt M, Dohrmann T
J CLIN MED. 2022;11(13):.

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2
Aries C, Lohmöller B, Tiede S, Täuber K, Hartmann G, Rudolph C, Muschol N
FRONT NEUROL. 2022;13:907317.

Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
Aries C, Lohmöller B, Tiede S, Täuber K, Rudolph C, Muschol N
MOL GENET METAB. 2022;135(2):.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
Ditters I, Huidekoper H, Kruijshaar M, Rizopoulos D, Hahn A, Mongini T, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek N, van der Ploeg A, van den Hout J
LANCET CHILD ADOLESC. 2022;6(1):28-37.

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann J, Neubauer B, Hobbiebrunken E, Husain R, Hahn A
NEUROPEDIATRICS. 2022;53(1):39-45.

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Lanar S, Parker S, O'Neill C, Marrel A, Arnould B, Héron B, Muschol N, Wijburg F, Chakrapani A, Olivier S, Aiach K
ORPHANET J RARE DIS. 2022;17(1):75.

Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)
Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, Hennermann J, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das A, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, von Cossel K, Blaschke D, Brand S, Alexander Mann W, Kampmann C, Muschol N, Canaan-Kühl S, Brand E
EUR HEART J-CARD PHA. 2022;8(3):272–281.

Sanfilippo syndrome: consensus guidelines for clinical care
Muschol N, Giugliani R, Jones S, Muenzer J, Smith N, Whitley C, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C
ORPHANET J RARE DIS. 2022;17(1):391.

Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI
Nagpal R, Georgi G, Knauth S, Schmid-Herrmann C, Muschol N, Braulke T, Kahl-Nieke B, Amling M, Schinke T, Koehne T, Petersen J
FRONT PHYSIOL. 2022;13:.

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez M, Couce M, Lin S, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz A, Maricich S, Kuca B, Kovalchin J, Zanelli E
J PEDIATR-US. 2022;249:50-58.e2.

Spinal cord compression in patients with mucopolysaccharidosis
Pantel T, Lindschau M, Luebke A, Kunkel P, Dreimann M, Muschol N, Eicker S
EUR SPINE J. 2022;31(7):1693-1699.

Mandibular condyle morphology among patients with mucopolysaccharidosis: an observational study of panoramic radiographs
Schmid-Herrmann C, Muschol N, Fuhrmann V, Koehn A, Lezius S, Kahl-Nieke B, Koehne T
INT J PAEDIATR DENT. 2022;32(5):737-744.

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg F, Aiach K, Chakrapani A, Eisengart J, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S
MOL GENET METAB. 2022;135(2):133-142.

Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients
Ammer L, Dohrmann T, Muschol N, Lang A, Breyer S, Ozga A, Petzoldt M
J CLIN MED. 2021;10(16):3518.

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer L, Pohl S, Breyer S, Aries C, Denecke J, Perez A, Petzoldt M, Schrum J, Müller I, Muschol N
MOL GENET METAB REP. 2021;26:.

Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease
Atiskova Y, Wildner J, Spitzer M, Aries C, Muschol N, Dulz S
ORPHANET J RARE DIS. 2021;16(1):.

Hip pathologies in mucopolysaccharidosis type III
Breyer S, Vettorazzi E, Schmitz L, Gulati A, von Cossel K, Spiro A, Rupprecht M, Stuecker R, Muschol N
J ORTHOP SURG RES. 2021;16(1):.

Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y
Cossel K, Muschol N, Friedrich R, Glatzel M, Ammer L, Lohmöller B, Bendszus M, Mautner V, Godel T
MUSCLE NERVE. 2021;63(5):745-750.

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo G, Westermann L, Schinke T, Stürznickel J, Ludwig N, Ammer L, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer S, Board T, Foster A, Mercer J, Tylee K, Velho R, Schweizer M, Renné T, Braulke T, Randon D, Sperb-Ludwig F, de Camargo Pinto L, Moreno C, Cavalcanti D, Amling M, Kutsche K, Winter D, Muschol N, Schwartz I, Rolvien T, Danyukova T, Schinke T, Pohl S
GENET MED. 2021;23(12):2369-2377.

Mucolipidosis type II and type III: a systematic review of 843 published cases
Dogterom E, Wagenmakers M, Wilke M, Demirdas S, Muschol N, Pohl S, van der Meijden J, Rizopoulos D, van der Ploeg A, Oussoren E
GENET MED. 2021;23(11):2047-2056.

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I
Giugliani R, Muschol N, Keenan H, Dant M, Muenzer J
ARCH DIS CHILD. 2021;106(7):674-679.

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
Wijburg F, Whitley C, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Alexanderian D
MOL GENET METAB. 2021;134(1-2):175-181.

Hip Morphology in Mucolipidosis Type II
Ammer L, Oussoren E, Muschol N, Pohl S, Rubio-Gozalbo M, Santer R, Stücker R, Vettorazzi E, Breyer S
J CLIN MED. 2020;9(3):E728.

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: a retrospective cohort study
Dohrmann T, Muschol N, Sehner S, Punke M, Haas S, Roeher K, Breyer S, Koehn A, Ullrich K, Zöllner C, Petzoldt M
PEDIATR ANESTH. 2020;30(2):181-190.

Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T
Godel T, V Cossel K, Friedrich R, Glatzel M, Canaan-Kühl S, Duning T, Kronlage M, Heiland S, Bendszus M, Muschol N, Mautner V
DIAGNOSTICS. 2020;10(12):.

Diagnosis and Care of Infants and Children with Pompe Disease
Hahn A, Hennermann J, Huemer M, Kampmann C, Marquardt T, Mengel E, Müller-Felber W, Muschol N, Rohrbach M, Stehling F
KLIN PADIATR. 2020;232(02):55-61.

Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes
Hendrickx G, Danyukova T, Baranowsky A, Rolvien T, Angermann A, Schweizer M, Keller J, Schröder J, Meyer-Schwesinger C, Muschol N, Paganini C, Rossi A, Amling M, Pohl S, Schinke T
HUM MOL GENET. 2020;29(5):803-816.

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
Hennermann J, Guffon N, Cattaneo F, Ceravolo F, Borgwardt L, Lund A, Gil-Campos M, Tylki-Szymanska A, Muschol N
ORPHANET J RARE DIS. 2020;15(1):271.

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Kloth K, Vater I, Lindschau R, Rau I, Caliebe A, Muschol N
MOL GENET METAB REP. 2020;25:.

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Köhn A, Grigull L, du Moulin M, Kabisch S, Ammer L, Rudolph C, Muschol N
MOL GENET METAB REP. 2020;23:100578.

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)
Lenders M, Nordbeck P, Kurschat C, Karabul N, Kaufeld J, Hennermann J, Patten M, Cybulla M, Müntze J, Üçeyler N, Liu D, Das A, Sommer C, Pogoda C, Reiermann S, Duning T, Gaedeke J, Stumpfe K, Blaschke D, Brand S, Mann W, Kampmann C, Muschol N, Canaan-Kühl S, Brand E
CLIN PHARMACOL THER. 2020;108(2):326-337.

Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints
van der Lee J, Morton J, Adams H, Clarke L, Eisengart J, Escolar M, Giugliani R, Harmatz P, Hogan M, Kearney S, Muenzer J, Muschol N, Rust S, Saville B, Semrud-Clikeman M, Wang R, Shapiro E
MOL GENET METAB. 2020;131(1-2):181-196.

Retinal hyperreflective foci in Fabry disease
Atiskova Y, Rassuli R, Koehn A, Golsari A, Wagenfeld L, du Moulin M, Muschol N, Dulz S
ORPHANET J RARE DIS. 2019;14(1):296.

Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Godel T, Bäumer P, Stumpfe K, Muschol N, Kronlage M, Brunnée M, Kollmer J, Heiland S, Bendszus M, Mautner V
J NEUROL. 2019;266(6):1332-1339.

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Jahic A, Günther S, Muschol N, Fossøy Stadheim B, Braaten Ø, Kjensli Hyldebrandt H, Kuiper G, Tylee K, Wijburg F, Beetz C
MOL GENET GENOM MED. 2019;7(9):e00615.

Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
Koehne T, Müller-Stöver S, Köhn A, Stumpfe K, Lezius S, Schmid C, Lukacs Z, Kahl-Nieke B, Muschol N
SLEEP BREATH. 2019;23(4):1315-1321.

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol N, Pape D, Kossow K, Ullrich K, Arash-Kaps L, Hennermann J, Stücker R, Breyer S
ORPHANET J RARE DIS. 2019;14(1):93.

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
Shapiro E, Lourenço C, Mungan N, Muschol N, O'Neill C, Vijayaraghavan S
ORPHANET J RARE DIS. 2019;14(1):168.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations
Velho R, Harms F, Danyukova T, Ludwig N, Friez M, Cathey S, Filocamo M, Tappino B, Güneş N, Tüysüz B, Tylee K, Brammeier K, Heptinstall L, Oussoren E, van der Ploeg A, Petersen C, Alves S, Saavedra G, Schwartz I, Muschol N, Kutsche K, Pohl S
HUM MUTAT. 2019;40(7):842-864.

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial
Wijburg F, Whitley C, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D
MOL GENET METAB. 2019;126(2):121-130.

Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
Berger-Groch J, Rupprecht M, Stuecker R, Muschol N, Breyer S
Journal of orthopaedic case reports. 2018;8(5):50-53.

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
Berger K, Burton B, Lewis G, Tarnopolsky M, Harmatz P, Mitchell J, Muschol N, Jones S, Sutton V, Pastores G, Lau H, Sparkes R, Shaywitz A
JIMD reports. 2018;42:9-17.

Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer S, Muschol N, Schmidt M, Rupprecht M, Babin K, Herrmann J, Stücker R
J PEDIATR ORTHOPED. 2018;38(9):478-483.

p.D313Y is more than just a polymorphism in Fabry disease
du Moulin M, Muschol N
CLIN GENET. 2018;93(6):1258.

Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease
Godel T, Köhn A, Muschol N, Kronlage M, Schwarz D, Kollmer J, Heiland S, Bendszus M, Mautner V, Bäumer P
J NEUROL. 2018;265(11):2723-2729.

Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study
Koehne T, Köhn A, Friedrich R, Kordes U, Schinke T, Muschol N, Kahl-Nieke B
CLIN ORAL INVEST. 2018;22(3):1541-1549.

Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy
Loso J, Lund N, Avanesov M, Muschol N, Lezius S, Cordts K, Schwedhelm E, Patten M
FRONT CARDIOVASC MED. 2018;5:108.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Lund A, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali C, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout J, Jones S, Amraoui Y, Harmatz P, Guffon N
J INHERIT METAB DIS. 2018;41(6):1225-1233.

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
Pohl S, Angermann A, Jeschke A, Hendrickx G, Yorgan T, Makrypidi-Fraune G, Steigert A, Kuehn S, Rolvien T, Schweizer M, Koehne T, Neven M, Winter O, Velho R, Albers J, Streichert T, Pestka J, Baldauf C, Breyer S, Stuecker R, Muschol N, Cox T, Saftig P, Paganini C, Rossi A, Amling M, Braulke T, Schinke T
J BONE MINER RES. 2018;33(12):2186-2201.

The mutation p.D313Y is associated with organ manifestation in Fabry disease
du Moulin M, Koehn A, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N
CLIN GENET. 2017;92(5):528-533.

Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Godel T, Bäumer P, Pham M, Köhn A, Muschol N, Kronlage M, Kollmer J, Heiland S, Bendszus M, Mautner V
NEUROLOGY. 2017;89(12):1274-1282.

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study
Harmatz P, Mengel E, Geberhiwot T, Muschol N, Hendriksz C, Burton B, Jameson E, Berger K, Jester A, Treadwell M, Sisic Z, Decker C
AM J MED GENET A. 2017;173(2):375-383.

Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
Bäumer T, Bühring N, Schelle T, Münchau A, Muschol N
DEV MED CHILD NEUROL. 2016;58(11):1172-1179.

Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development
Koehne T, Markmann S, Schweizer M, Muschol N, Friedrich R, Hagel C, Glatzel M, Kahl-Nieke B, Amling M, Schinke T, Braulke T
BBA-MOL BASIS DIS. 2016;1862(9):1570–1580.

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Schmidt M, Breyer S, Löbel U, Yarar S, Stücker R, Ullrich K, Müller I, Muschol N
ORPHANET J RARE DIS. 2016;11(1):93.

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
Burton B, Berger K, Lewis G, Tarnopolsky M, Treadwell M, Mitchell J, Muschol N, Jones S, Sutton V, Pastores G, Lau H, Sparkes R, Genter F, Shaywitz A, Harmatz P
AM J MED GENET A. 2015;167A(10):2272-2281.

A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I
Dulz S, Wagenfeld L, Richard G, Schrum J, Muschol N, Keserü M
OPHTHAL PLAST RECONS. 2015.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann J, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E
JIMD reports. 2015;20:65-75.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial
Hendriksz C, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores G, Lau H, Al-Sayed M, Raiman J, Yang K, Mealiffe M, Haller C
MOL GENET METAB. 2015;114(2):178-85.

Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I
Kühn S, Koehne T, Cornils K, Markmann S, Riedel C, Pestka J, Schweizer M, Baldauf C, Yorgan T, Krause M, Keller J, Neven M, Breyer S, Stücker R, Muschol N, Busse B, Braulke T, Fehse B, Amling M, Schinke T
HUM MOL GENET. 2015;24(24):7075-7086.

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittrücker H, Braulke T
J CELL BIOL. 2015;208(2):171-80.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Lampe C, Bosserhoff A, Burton B, Giugliani R, de Souza C, Bittar C, Muschol N, Olson R, Mendelsohn N
J INHERIT METAB DIS. 2014;37(5):823-829.

Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)
Muschol N
2014. Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg R, Panteliadis C, Hagel C (Hrsg.). 2. Aufl. München: Urban & Fischer, .

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Cohn G, Morin I, Whiteman D
EUR J PEDIATR. 2013;172(7):965-70.

The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)
Jones S, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn N
MOL GENET METAB. 2013;109(1):41-8.

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)
Burton B, Whiteman D, , Muschol N
MOL GENET METAB. 2011;103(2):113-20.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T
AM J MED GENET A. 2011;155A(7):1634-1639.

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey
Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S, , Muschol N
MOL GENET METAB. 2010;101(2-3):123-9.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey
Mendelsohn N, Harmatz P, Bodamer O, Burton B, Giugliani R, Jones S, Lampe C, Malm G, Steiner R, Parini R, , Muschol N
GENET MED. 2010;12(12):816-22.

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Pohl S, Encarnação M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T
AM J MED GENET A. 2010;152(1):124-132.

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages
Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T
J BIOL CHEM. 2010;285(31):23936-23944.

Kidney transplantation in patients with Fabry disease
Cybulla M, Walter K, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G
TRANSPL INT. 2009;22(4):475-481.

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M
LANCET. 2009;374(9706):1986-1996.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1
Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer S, Muschol N, Herdering W, Thiem J, Goodman S, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2008;1782(6):385-390.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)
Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T
HUM MOL GENET. 2008;17(24):3854-3863.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N
HUM MUTAT. 2008;29(5):770.

Initial report from the Hunter Outcome Survey
Wraith J, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J, , Muschol N
GENET MED. 2008;10(7):508-16.

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D, Garbade S, Vohwinkel C, Muschol N, Trefz F, Penzien J, Zschocke J, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2007;30(3):375-387.

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N
PEDIATRICS. 2007;120(5):1255-1261.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R
J INHERIT METAB DIS. 2005;28(6):945-950.

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Stephan T, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T
AM J MED GENET A. 2005;137(3):235-240.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Muschol N, Storch S, Ballhausen D, Beesley C, Westermann J, Gal A, Ullrich K, Hopwood J, Winchester B, Braulke T
HUM MUTAT. 2004;23(6):559-566.

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Stephan T, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T
HUM MUTAT. 2004;24(6):535.

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Mühlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z
J INHERIT METAB DIS. 2003;26(7):713-714.

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Muschol N, Matzner U, Stephan T, Gieselmann V, Ullrich K, Braulke T
BIOCHEM J. 2002;368(3):845-853.

Letzte Aktualisierung aus dem FIS: 29.11.2024 - 23:32 Uhr