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Carbohydrate-deficient glycoprotein syndromes: The Italian experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 391, doi. 10.1023/A:1005608019977
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- Publication type:
- Article
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 247, doi. 10.1023/A:1005521702298
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- Publication type:
- Article
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 43, doi. 10.1023/A:1005495131118
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- Publication type:
- Article
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 155, doi. 10.1023/A:1005347826664
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- Publication type:
- Article
Mutations among Italian mucopolysaccharidosis type I patients.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 803, doi. 10.1023/A:1005323918923
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- Publication type:
- Article
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
- Published in:
- 1998
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- Publication type:
- journal article
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 6, p. 443, doi. 10.1034/j.1399-0004.2002.610608.x
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- Publication type:
- Article
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.
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- Clinical Genetics, 2002, v. 61, n. 6, p. 465, doi. 10.1034/j.1399-0004.2002.610612.x
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- Publication type:
- Article
Clinical Presentation and Stroke Incidence Differ by Moyamoya Etiology.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 4, p. 272, doi. 10.1177/0883073820967160
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- Publication type:
- Article
Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI.
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- Neuroradiology, 2003, v. 45, n. 5, p. 315, doi. 10.1007/s00234-003-0945-9
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- Publication type:
- Article
Inhibition of Glutamine Synthetase Triggers Apoptosis in Asparaginase-Resistant Cells.
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- Cellular Physiology & Biochemistry (Karger AG), 2005, v. 15, n. 6, p. 281, doi. 10.1159/000087238
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- Publication type:
- Article
Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia.
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- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03259-2
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- Publication type:
- Article
Conservative vs. surgical approach for degenerative meniscal injuries: a systematic review of clinical evidence.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2020, v. 24, n. 6, p. 2874
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- Publication type:
- Article
The prevention of analgesic opioids abuse: expert opinion.
- Published in:
- 2015
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- Publication type:
- Opinion
Ethanol causes neurogenic vasodilation by TRPV1 activation and CGRP release in the trigeminovascular system of the guinea pig.
- Published in:
- Cephalalgia, 2008, v. 28, n. 1, p. 9, doi. 10.1111/j.1468-2982.2007.01448.x
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- Publication type:
- Article
CHARACTERIZATION OF A SERUM INHIBITOR OF MLC REACTIONS.
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- Clinical & Experimental Immunology, 1973, v. 13, n. 3, p. 427
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- Publication type:
- Article
Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation.
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- Bone Marrow Transplantation, 2001, v. 27, n. 7, p. 747, doi. 10.1038/sj.bmt.1702994
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- Publication type:
- Article
Prenatal diagnosis of Hunter syndrome using chorionic villi.
- Published in:
- 1986
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- Publication type:
- journal article
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
- Published in:
- 1985
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- Publication type:
- journal article
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.
- Published in:
- Prenatal Diagnosis, 1985, v. 5, n. 2, p. 149, doi. 10.1002/pd.1970050209
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- Publication type:
- Article
Predictors of effectiveness of multidisciplinary rehabilitation treatment on motor dysfunction in multiple sclerosis.
- Published in:
- Multiple Sclerosis Journal, 2014, v. 20, n. 7, p. 862, doi. 10.1177/1352458513508834
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- Publication type:
- Article
Ethanol Increases the Paracellular Permeability of Monolayers of CAPAN-1 Pancreatic Duct Cells.
- Published in:
- Journal of Molecular Histology, 2004, v. 35, n. 4, p. 355, doi. 10.1023/B:HIJO.0000039838.56131.02
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- Publication type:
- Article
Occurrence of malignancy in immunodeficiency diseases. A literature review.
- Published in:
- 1971
- By:
- Publication type:
- journal article
Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 11, p. 875, doi. 10.1007/s004150070076
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- Publication type:
- Article
Human cytomegalovirus proteins PP65 and IEP72 are targeted to distinct compartments in nuclei and nuclear matrices of infected human embryo fibroblasts.
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- Journal of Cellular Biochemistry, 2003, v. 90, n. 5, p. 1056, doi. 10.1002/jcb.10655
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- Publication type:
- Article
Employment of Confocal Microscopy for the Dynamic Visualization of Domes in Intact Epithelial Cell Cultures.
- Published in:
- Cells Tissues Organs, 2002, v. 170, n. 4, p. 237, doi. 10.1159/000047927
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- Publication type:
- Article
Reliability of Short-term Esophageal pH Monitoring Versus 24-Hour Study.
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- Journal of Pediatric Gastroenterology & Nutrition, 1995, v. 21, n. 1, p. 87
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- Publication type:
- Article
Hypertrophic gastropathy with transient sessile polyps.
- Published in:
- 1992
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- Publication type:
- journal article
Pseudolymphoma as adverse reaction to tamoxifen.
- Published in:
- 2008
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- Publication type:
- Letter
New Groups and Segregant Series Among B-Cell Alloantigens of the <em>Merrit</em> System.
- Published in:
- Scandinavian Journal of Immunology, 1977, v. 6, n. 5, p. 393, doi. 10.1111/j.1365-3083.1977.tb02094.x
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- Publication type:
- Article
Use of Long-Term Leukapheresis in the Treatment of Chronic Lymphocytic Leukemia.
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- Transfusion, 1980, v. 20, n. 4, p. 450, doi. 10.1046/j.1537-2995.1980.20480260279.x
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- Publication type:
- Article
The interaction of AGT and NOS3 gene polymorphisms with conventional risk factors increases predisposition to hypertension.
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- Journal of the Renin-Angiotensin-Aldosterone System, 2013, v. 14, n. 4, p. 360, doi. 10.1177/1470320312452027
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- Publication type:
- Article
HPLC-Fluorescence Determination of Individual Free and Conjugated Bile Acids in Human Serum.
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- Biomedical Chromatography, 1997, v. 11, n. 1, p. 11, doi. 10.1002/(SICI)1099-0801(199701)11:1<11::AID-BMC608>3.0.CO;2-2
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- Publication type:
- Article
SÍNDROME MIELODISPLÁSICA POR EXCESSO DE BLASTOS EM CÃO.
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- ARS Veterinaria, 2017, v. 33, n. 2, p. 71
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- Publication type:
- Article
Normal human IgG prevents endothelial cell activation induced by TNFα and oxidized low-density lipoprotein atherogenic stimuli.
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- Clinical & Experimental Immunology, 2003, v. 133, n. 2, p. 219, doi. 10.1046/j.1365-2249.2003.02215.x
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- Publication type:
- Article
Binding and internalization of human IgG by living cultured endothelial cells.
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- Clinical & Experimental Immunology, 1997, v. 109, n. 1, p. 211, doi. 10.1046/j.1365-2249.1997.4051305.x
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- Publication type:
- Article
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.
- Published in:
- Cell Death & Differentiation, 2011, v. 18, n. 9, p. 1500, doi. 10.1038/cdd.2011.18
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- Publication type:
- Article
ATM Gene Founder Haplotypes and Associated Mutations in Polish Families with Ataxia-Telangiectasia.
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- Annals of Human Genetics, 2005, v. 69, n. 6, p. 657, doi. 10.1111/j.1529-8817.2005.00199.x
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- Publication type:
- Article
Assessment of body plantar pressure in elite athletes: an observational study.
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- Sport Sciences for Health, 2013, v. 9, n. 1, p. 13, doi. 10.1007/s11332-013-0139-8
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- Publication type:
- Article
Electromyographic activity of the rectus abdominis muscle during exercise performed with the AB Slider.
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- Sport Sciences for Health, 2006, v. 1, n. 3, p. 109, doi. 10.1007/s11332-006-0019-6
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- Publication type:
- Article
Social determinants of iron supplementation among women of reproductive age: a systematic review of qualitative data.
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- Maternal & Child Nutrition, 2012, v. 8, n. 1, p. 1, doi. 10.1111/j.1740-8709.2011.00338.x
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- Publication type:
- Article
Pregnancy and tyrosinaemia type II.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 317, doi. 10.1023/A:1016558510123
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- Publication type:
- Article
Non-apoptotic programmed cell death induced by a copper(II) complex in human fibrosarcoma cells.
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- Histochemistry & Cell Biology, 2006, v. 126, n. 4, p. 473, doi. 10.1007/s00418-006-0183-4
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- Publication type:
- Article
The inhibition of glutamine synthetase sensitizes human sarcoma cells to l-asparaginase.
- Published in:
- Cancer Chemotherapy & Pharmacology, 2007, v. 60, n. 5, p. 751, doi. 10.1007/s00280-007-0421-z
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- Publication type:
- Article
Comparison of esophagectomy with and without thoracotomy in a low-resource tertiary care center in a developing country.
- Published in:
- Diseases of the Esophagus, 2011, v. 24, n. 8, p. 583, doi. 10.1111/j.1442-2050.2011.01194.x
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- Publication type:
- Article
Fluorosulfuryl Fluoroperoxide.
- Published in:
- Angewandte Chemie International Edition, 1963, v. 2, n. 3, p. 149, doi. 10.1002/anie.196301491
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- Publication type:
- Article
Rehabilitation during the first four weeks after anterior cruciate ligament reconstruction. Use of braces, weight-bearing and exercises: literature review.
- Published in:
- 2010
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- Publication type:
- Journal Article
Whole body vibration clinical applications: literature review.
- Published in:
- 2009
- By:
- Publication type:
- Journal Article
The Molecular Conception of Rickets Pathogenesis. I. Clinical Research.
- Published in:
- Pharmacology, 1968, v. 18, n. 4-6, p. 193, doi. 10.1159/000137158
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- Publication type:
- Article
Electromyographic activity to keep a lower limb in a raised position in healthy subjects and subjects with multiple sclerosis.
- Published in:
- Multiple Sclerosis (13524585), 2008, v. 14, n. 5, p. 691, doi. 10.1177/1352458507087841
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- Publication type:
- Article