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):.

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;26:100704.

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 [Epub ahead of print].

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.

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.

Letzte Aktualisierung aus dem FIS: 23.10.2021 - 00:33 Uhr