Suchergebnisse

PubPharm (38)

1

Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

sonderdruck aus: Orphanet journal of rare diseases | 2021

von Atalaia, A. | Lochmüller, H. | Bonne, G.

2

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

sonderdruck aus: Orphanet journal of rare diseases | 2021

von Grau, J. | Jacobs-LeVan, J. | Klotz, K. | +1

3

Impact of glycogen storage disease type I on adult daily life: a survey

sonderdruck aus: Orphanet journal of rare diseases | 2021

von Garbade, S. | Ederer, V. | Burgard, P. | +4

4

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

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Heard, J. | Vrinten, C. | Schlander, M. | +4

5

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Grünert, S. | Sass, J.

6

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Walczak-Sztulpa, J. | Posmyk, R. | Bukowska-Olech, E. | +7

7

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Tucci, S.

8

Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Grünert, S. | Tucci, S. | Schumann, A. | +6

9

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Grünert, S. | Sass, J.

10

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

sonderdruck aus: Orphanet journal of rare diseases | 2020

von Mellerio, J. | El Hachem, M. | Bellon, N. | +8