B Bembi
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Explore the profile of B Bembi including associated specialties, affiliations and a list of published articles.
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52
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1255
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Recent Articles
1.
Baig S, Vijapurapu R, Alharbi F, Nordin S, Kozor R, Moon J, et al.
QJM
. 2018 Jun;
112(1):3-9.
PMID: 29878206
Fabry disease (FD) has been a diagnostic challenge since it was first recognized in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is...
2.
Cerneca F, Parco E, Simeone R, Bembi B, Giorgi R
Haemophilia
. 2016 May;
1(3):200-1.
PMID: 27214541
We report two cases of factor V deficiency. A 12-year-old girl with thalassemia major was admitted for bone marrow transplant (mismatched). She was found to have a heterozygous deficiency of...
3.
Dardis A, Zampieri S, Canterini S, Newell K, Stuani C, Murrell J, et al.
Acta Neuropathol Commun
. 2016 May;
4(1):52.
PMID: 27193329
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by the occurrence of visceral and neurological symptoms. At present, the molecular mechanisms causing neurodegeneration in this disease are...
4.
Reunert J, Lotz-Havla A, Polo G, Kannenberg F, Fobker M, Griese M, et al.
JIMD Rep
. 2015 Mar;
23:17-26.
PMID: 25772320
Introduction: Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC...
5.
Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, et al.
J Neurol
. 2011 Nov;
259(5):952-8.
PMID: 22081099
The objective of this study was to describe a large Italian cohort of patients with late-onset glycogen storage disease type 2 (GSDII) at various stages of disease progression and to...
6.
Pineda M, Wraith J, Mengel E, Sedel F, Hwu W, Rohrbach M, et al.
Mol Genet Metab
. 2009 Aug;
98(3):243-9.
PMID: 19656703
Miglustat has been shown to stabilize disease progression in children, juveniles and adults with Niemann-Pick disease type C (NP-C), a rare genetic disorder characterized by progressive neurological deterioration. We report...
7.
Vellodi A, Tylki-Szymanska A, Davies E, Kolodny E, Bembi B, Collin-Histed T, et al.
J Inherit Metab Dis
. 2009 Aug;
32(5):660-664.
PMID: 19655269
The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme...
8.
Wraith J, Guffon N, Rohrbach M, Hwu W, Korenke G, Bembi B, et al.
Mol Genet Metab
. 2009 Jul;
98(3):250-4.
PMID: 19616462
Niemann-Pick disease type C (NP-C) is a devastating genetic disorder characterised by progressive neurological deterioration. However, data on the progression of neurological manifestations, particularly across different patient age-of-disease onsets, are...
9.
Bembi B, Cerini E, Danesino C, Donati M, Gasperini S, Morandi L, et al.
Neurology
. 2008 Dec;
71(23 Suppl 2):S4-11.
PMID: 19047572
The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating,...
10.
Bembi B, Cerini E, Danesino C, Donati M, Gasperini S, Morandi L, et al.
Neurology
. 2008 Dec;
71(23 Suppl 2):S12-36.
PMID: 19047571
Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a metabolic disease specialist or biochemical geneticist, cardiologist,...