M. Barth

发表

Mutation analysis in 54 propionic acidemia patients

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

Propionic acidemia: neonatal versus selective metabolic screening

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

[Bezafibrate-induced myolysis and myoglobinuria in patients with impaired renal function].

F. Scheler, H. Kaiser, M. Blech, 1984, Klinische Wochenschrift.

Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy

F. Eichler, K. Howie, C. Sevin, 2022, Orphanet Journal of Rare Diseases.

Laboratory Findings, Medical Imaging, and Clinical Outcome in Children with Cerebral Sinus Venous Thrombosis

M. Uhl, B. Zieger, M. Eckenweiler, 2021, Hämostaseologie.

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

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

Deletion of human GP 1 BB and SEPT 5 is associated with Bernard-Soulier syndrome , platelet secretion defect , polymicrogyria , and develop-mental delay

P. Nurden, J. Oldenburg, I. Hainmann, 2018 .

Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay

P. Nurden, J. Oldenburg, I. Hainmann, 2011, Thrombosis and Haemostasis.

The wide POLG-related spectrum: An integrated view

P. Amati‐Bonneau, A. Echaniz-Laguna, T. Kuntzer, 2016, Journal of the Neurological Sciences.