Suchergebnisse - "Rare disease"

PubPharm (2.207)

1

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes : key milestones assessed from a national reference center

enthalten in: Orphanet journal of rare diseases | 2024

von Donadille, B. | Janmaat, S. | Mosbah, H. | +8

2

'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta

enthalten in: Orphanet journal of rare diseases | 2024

von Di Martino, V. | Mallone, F. | Lambiase, A. | +6

3

Different patient versus provider perspectives on living with Cushing's disease

enthalten in: Pituitary | 2024

von Halstrom, A. | Lin, I. | Lin, A. | +3

4

Gyrate atrophy of the choroid and retina : Update on diagnosis and treatment

enthalten in: Archivos de la Sociedad Espanola de Oftalmologia | 2024

von Merino Diez, M. | Soria Prada, C. | Zamorano Aleixandre, M. | +1

5

PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria

enthalten in: Revista clinica espanola | 2024

von Riera-Mestre, A. | García Morillo, J. | Castelbón Fernández, J. | +6

6

Pathway for Development and Validation of Multi-domain Endpoints for Amyloid Light Chain (AL) Amyloidosis

enthalten in: Therapeutic innovation & regulatory science | 2024

von Signorovitch, J. | Zhang, J. | Brown, D. | +6

7

Mediastinal malignant rhabdoid tumor in an infant : A rare case report

enthalten in: Radiology case reports | 2024

von Zarei, E. | Alemohamad, O. | Rahimi, Z. | +6

8

Patient-Centric Approaches : Revolutionizing Rare Disease Drug Research

enthalten in: Infectious disorders drug targets | 2024

von Verma, A. | Awasthi, A.

9

Coexistence of kaposiform hemangioendothelioma and capillary malformation : More than a coincidence? Two case reports

enthalten in: Heliyon | 2024

von Gong, X. | Zhou, J. | Chen, S. | +1

10

Hemispherotomy in an infant with hemimegalencephaly and Ohtahara syndrome

enthalten in: Wiener medizinische Wochenschrift (1946) | 2024

von Pavičić Klancir, K. | Habek, D. | Đuranović, V. | +3

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