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Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 55, doi. 10.1159/000351022
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- Publication type:
- Article
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
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- Clinical Genetics, 1988, v. 34, n. 1, p. 31, doi. 10.1111/j.1399-0004.1988.tb02612.x
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- Publication type:
- Article
Effect of soluble and membrane proteins upon diethyl ether extraction of aqueous phospholipid dispersions.
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- Lipids, 1974, v. 9, n. 4, p. 221, doi. 10.1007/BF02532197
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- Publication type:
- Article
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
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- 2009
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- Publication type:
- journal article
Spontaneous arteriovenous fistula of the vertebral artery: three case reports.
- Published in:
- 2004
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- Publication type:
- Journal Article
Spontaneous Arteriovenous Fistula of the Vertebral Artery.
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- Angiology, 2004, v. 55, n. 3, p. 329, doi. 10.1177/000331970405500313
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- Publication type:
- Article
Angiogenesis in intracranial meningiomas: immunohistochemical and molecular study.
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- Neuropathology & Applied Neurobiology, 2004, v. 30, n. 2, p. 118, doi. 10.1046/j.0305-1846.2003.00516.x
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- Publication type:
- Article
Role of the cytopathologist during the procedure of fine-needle aspiration biopsy of thyroid nodules.
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- Insights into Imaging, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13244-021-01053-y
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- Publication type:
- Article
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.
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- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 937, doi. 10.1038/sj.ejhg.5200390
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- Article
Imaging of segmental testicular infarction: our experience and literature review.
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- La Radiologia Medica, 2012, v. 117, n. 7, p. 1161, doi. 10.1007/s11547-012-0798-6
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- Publication type:
- Article
Role of color-Doppler sonography in the follow-up of renal artery stenting.
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- La Radiologia Medica, 2008, v. 113, n. 2, p. 242, doi. 10.1007/s11547-008-0240-2
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- Article
Association between testicular microlithiasis and primary malignancy of the testis: our experience and review of the literature.
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- La Radiologia Medica, 2007, v. 112, n. 4, p. 588, doi. 10.1007/s11547-007-0165-1
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- Publication type:
- Article
Colour-Doppler US evaluation of patients with hypertension and nephropathy.
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- La Radiologia Medica, 2006, v. 111, n. 8, p. 1115, doi. 10.1007/s11547-006-0109-1
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- Publication type:
- Article
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs.
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- 2003
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- Publication type:
- journal article
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
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- 1996
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- Publication type:
- journal article
Echo-Doppler abnormalities in mucopolysaccharide storage diseases.
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- 1992
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- Publication type:
- journal article
Chronic diarrhea in mucopolysaccharidosis IIIB.
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- 2009
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- Publication type:
- Journal Article
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
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- Clinical Endocrinology, 2005, v. 63, n. 1, p. 19, doi. 10.1111/j.1365-2265.2005.02292.x
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- Publication type:
- Article
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.
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- European Journal of Neurology, 2013, v. 20, n. 5, p. 740, doi. 10.1111/ene.12024
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- Publication type:
- Article
Increased Carotid Intima Media Thickness and Wave Reflection in Patients with Intracranial Aneurysms
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- 2009
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- Publication type:
- Abstract
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
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- 2019
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- Publication type:
- journal article
Ocular findings and skin histology in a group of patients with X-linked ichthyosis.
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- British Journal of Dermatology, 1988, v. 119, n. 2, p. 185, doi. 10.1111/j.1365-2133.1988.tb03200.x
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- Article
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
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- Human Mutation, 2008, v. 29, n. 6, p. E27, doi. 10.1002/humu.20753
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- Article
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
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- Human Mutation, 2006, v. 27, n. 10, p. 999, doi. 10.1002/humu.20374
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- Publication type:
- Article
Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1.
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- Human Mutation, 2004, v. 24, n. 1, p. 105, doi. 10.1002/humu.9258
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- Publication type:
- Article
Carotid plaque features on angiography and asymptomatic cerebral microembolism.
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- Acta Neurologica Scandinavica, 1997, v. 96, n. 3, p. 183, doi. 10.1111/j.1600-0404.1997.tb00264.x
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- Article
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
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- Journal of Inherited Metabolic Disease, 2008, v. 31, p. 227, doi. 10.1007/s10545-008-0810-4
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- Publication type:
- Article
Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings.
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- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 743, doi. 10.1007/s10545-007-0555-5
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- Publication type:
- Article
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
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- Journal of Inherited Metabolic Disease, 2006, v. 29, n. 1, p. 186, doi. 10.1007/s10545-006-0120-7
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- Publication type:
- Article
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
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- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 69, doi. 10.1007/s10545-005-3676-8
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- Publication type:
- Article
Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 619, doi. 10.1023/A:1005315106604
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- Article
Type a Niemann-Pick Disease. Description of Three Cases with Delayed Myelination.
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- Neuroradiology Journal, 2008, v. 21, n. 3, p. 309, doi. 10.1177/197140090802100303
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- Publication type:
- Article
Conduction processes of the gramicidin channel.
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- International Journal of Quantum Chemistry, 1981, v. 20, p. 385, doi. 10.1002/qua.560200735
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- Publication type:
- Article
X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia.
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- Annals of Neurology, 1987, v. 22, n. 1, p. 98, doi. 10.1002/ana.410220130
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- Publication type:
- Article