Suchergebnisse - "Vanier, M T"

PubPharm (238)

1

Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood : A retrospective multicentric study of 28 adult cases

enthalten in: La Revue de medecine interne | 2017

von Lidove, O. | Belmatoug, N. | Froissart, R. | +15

2

Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes

enthalten in: Revue de médecine interne | 2016

von Lidove, O. | Belmatoug, N. | Froissart, R. | +15

3

Niemann-Pick type C disease : a novel NPC1 mutation segregating in a Greek island

enthalten in: Clinical genetics | 2014

von Mavridou, I. | Cozar, M. | Douzgou, S. | +7

4

Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island

enthalten in: Clinical genetics | 2014

von Mavridou, I. | Cozar, M. | Douzgou, S. | +7

5

Recommendations for the diagnosis and management of Niemann-Pick disease type C : an update

enthalten in: Molecular genetics and metabolism | 2012

von Patterson, M. | Hendriksz, C. | Walterfang, M. | +27

6

Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2

enthalten in: Gut | 2009

von Modica, S. | Morgano, A. | Salvatore, L. | +9

CommentIn: Gut. 2009 Sep;58(9):1179-80. - PMID 19671549

7

P281 Designing a disease registry for Niemann Pick disease type C

enthalten in: European journal of paediatric neurology | 2009

von Pineda, M. | Wraith, J. | Wijburg, F. | +5

8

Tauopathies with parkinsonism : clinical spectrum, neuropathologic basis, biological markers, and treatment options

enthalten in: European journal of neurology | 2009

von Ludolph, A. | Kassubek, J. | Landwehrmeyer, B. | +32

9

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

enthalten in: Brain : a journal of neurology | 2009

von Mochel, F. | Sedel, F. | Vanderver, A. | +17

10

Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2

enthalten in: Gut | 2009

von Modica, S. | Morgano, A. | Salvatore, L. | +9

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[24]