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Biochemical signatures of disease severity in multiple sulfatase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 374, doi. 10.1002/jimd.12688
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- Publication type:
- Article
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory Perspective.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 4, p. 64, doi. 10.3390/ijns9040064
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- Publication type:
- Article
Parathyroidectomy and survival in a cohort of Italian dialysis patients: results of a multicenter, observational, prospective study.
- Published in:
- Journal of Nephrology (JNonline), 2023, v. 36, n. 7, p. 1947, doi. 10.1007/s40620-023-01658-0
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- Publication type:
- Article
Acylglycine Analysis by Ultra‐Performance Liquid Chromatography‐Tandem Mass Spectrometry (UPLC‐MS/MS).
- Published in:
- Current Protocols, 2023, v. 3, n. 4, p. 1, doi. 10.1002/cpz1.758
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- Publication type:
- Article
Association between Cognitive Impairment and Malnutrition in Hemodialysis Patients: Two Sides of the Same Coin.
- Published in:
- Nutrients, 2023, v. 15, n. 4, p. 813, doi. 10.3390/nu15040813
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- Publication type:
- Article
Oxygen Extraction and Mortality in Patients Undergoing Chronic Haemodialysis Treatment: A Multicentre Study.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 1, p. 138, doi. 10.3390/jcm12010138
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- Publication type:
- Article
Diastolic Pressure and ACR Are Modifiable Risk Factors of Arterial Stiffness in T2DM Without Cardiovascular Disease.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. e3857, doi. 10.1210/clinem/dgac291
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- Publication type:
- Article
Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 4, p. 70, doi. 10.3390/ijns7040070
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- Publication type:
- Article
Inflammation, Oxidative Stress, and Bone in Chronic Kidney Disease in the Osteoimmunology Era.
- Published in:
- Calcified Tissue International, 2021, v. 108, n. 4, p. 452, doi. 10.1007/s00223-020-00794-0
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- Publication type:
- Article
Focus on the Possible Role of Dietary Sodium, Potassium, Phosphate, Magnesium, and Calcium on CKD Progression.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 5, p. 958, doi. 10.3390/jcm10050958
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- Publication type:
- Article
Oxygen extraction ratio to identify patients at increased risk of intradialytic hypotension.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84375-7
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- Publication type:
- Article
Bone biopsy in chronic kidney disease: still neglected and in need of revitalization.
- Published in:
- Nephrology Dialysis Transplantation, 2021, v. 36, n. 2, p. 202, doi. 10.1093/ndt/gfaa269
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- Publication type:
- Article
Characterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA.
- Published in:
- Glycobiology, 2020, v. 30, n. 7, p. 433, doi. 10.1093/glycob/cwz109
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- Publication type:
- Article
Effects of sunitinib on endothelial dysfunction, metabolic changes, and cardiovascular risk indices in renal cell carcinoma.
- Published in:
- Cancer Medicine, 2020, v. 9, n. 11, p. 3752, doi. 10.1002/cam4.2910
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- Publication type:
- Article
A new technique for measuring fistula flow using venous blood gas oxygen saturation in patients with a central venous catheter.
- Published in:
- Clinical Kidney Journal, 2020, v. 13, n. 2, p. 184, doi. 10.1093/ckj/sfz064
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- Publication type:
- Article
New scenarios in secondary hyperparathyroidism: etelcalcetide. Position paper of working group on CKD-MBD of the Italian Society of Nephrology.
- Published in:
- Journal of Nephrology (JNonline), 2020, v. 33, n. 2, p. 211, doi. 10.1007/s40620-019-00677-0
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- Publication type:
- Article
Calciphylaxis: a conundrum for patients and nephrologists?
- Published in:
- 2019
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- Publication type:
- Letter
Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50595-1
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- Publication type:
- Article
Unusual Metabolites in a Patient with Isovaleric Acidemia.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 4, p. 595, doi. 10.1373/clinchem.2018.300558
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- Publication type:
- Article
Bone, inflammation and the bone marrow niche in chronic kidney disease: what do we know?
- Published in:
- Nephrology Dialysis Transplantation, 2018, v. 33, n. 12, p. 2092, doi. 10.1093/ndt/gfy115
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- Publication type:
- Article
Cover Image, Volume 39, Issue 11.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. i, doi. 10.1002/humu.23662
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- Publication type:
- Article
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1569, doi. 10.1002/humu.23649
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- Publication type:
- Article
Multicenter study on parathyroidectomy (PTX) in Italy: preliminary results.
- Published in:
- Journal of Nephrology (JNonline), 2018, v. 31, n. 5, p. 767, doi. 10.1007/s40620-018-0527-x
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- Publication type:
- Article
Galactose-1-Phosphate Uridyltransferase Activities in Different Genotypes: A Retrospective Analysis of 927 Samples.
- Published in:
- Journal of Applied Laboratory Medicine, 2018, p. 222, doi. 10.1373/jalm.2017.025536
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- Publication type:
- Article
CKD-MBD management: what is the role of parathyroidectomy? Results from a nationwide survey in Italy.
- Published in:
- Journal of Nephrology (JNonline), 2018, v. 31, n. 4, p. 585, doi. 10.1007/s40620-018-0481-7
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- Publication type:
- Article
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 197, doi. 10.1007/s10545-018-0136-9
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- Publication type:
- Article
Functional and molecular studies in primary carnitine deficiency.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1684, doi. 10.1002/humu.23315
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- Publication type:
- Article
Positioning novel biologicals in CKD-mineral and bone disorders.
- Published in:
- Journal of Nephrology (JNonline), 2017, v. 30, n. 5, p. 689, doi. 10.1007/s40620-017-0410-1
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- Publication type:
- Article
Interactions of sclerostin with FGF23, soluble klotho and vitamin D in renal transplantation.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0178637
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- Publication type:
- Article
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.
- Published in:
- Scientific Reports, 2016, p. 38305, doi. 10.1038/srep38305
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- Publication type:
- Article
Vitamin D: a dynamic molecule. How relevant might the dynamism for a vitamin be?
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 1, p. 23, doi. 10.1093/ndt/gfv340
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- Publication type:
- Article
Where is the link between mineral bone markers and cardiovascular disease in CKD?
- Published in:
- Clinical Kidney Journal, 2015, v. 8, n. 6, p. 729, doi. 10.1093/ckj/sfv104
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- Publication type:
- Article
Soluble α-Klotho Serum Levels in Chronic Kidney Disease.
- Published in:
- International Journal of Endocrinology, 2015, v. 2015, p. 1, doi. 10.1155/2015/872193
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- Publication type:
- Article
Biochemical abnormalities in Pearson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 621, doi. 10.1002/ajmg.a.36939
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- Publication type:
- Article
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 231, doi. 10.1007/s10545-013-9662-7
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- Publication type:
- Article
Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 656, doi. 10.1002/humu.22285
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- Publication type:
- Article
Diagnosing mucopolysaccharidosis IVA.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 2, p. 293, doi. 10.1007/s10545-013-9587-1
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- Publication type:
- Article
Distinct impact of vitamin D insufficiency on calcitriol levels in chronic renal failure and renal transplant patients: a role for FGF23?
- Published in:
- Journal of Nephrology (JNonline), 2012, v. 25, n. 6, p. 1108, doi. 10.5301/jn.5000102
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- Publication type:
- Article
Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
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- Publication type:
- Article
Genotype-phenotype correlation in primary carnitine deficiency.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 118, doi. 10.1002/humu.21607
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- Publication type:
- Article
UPDATE SULLA PATOGENESI E SUL POSSIBILE APPROCCIO TERAPEUTICO ALLE CALCIFICAZIONI VASCOLARI NEL PAZIENTE CON INSUFFICIENZA RENALE.
- Published in:
- Giornale Italiano di Nefrologia, 2011, v. 28, n. 5, p. 514
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- Publication type:
- Article
Does any therapy exist for vascular calcifications in uremia?
- Published in:
- Journal of Nephrology (JNonline), 2011, v. 24, p. S16, doi. 10.5301/JN.2011.7762
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- Publication type:
- Article
Stress-moderating effects of positive emotions: exposure to humorous movies during hemodialytic sessions decreases blood levels of stress hormones.
- Published in:
- Journal of Chinese Clinical Medicine, 2010, v. 5, n. 2, p. 61
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- Publication type:
- Article
Vitamin D receptor activators.
- Published in:
- International Journal of Artificial Organs, 2009, v. 32, n. 2, p. 101, doi. 10.1177/039139880903200207
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- Publication type:
- Article
Carcinogenic Effects in a Phenylketonuria Mouse Model.
- Published in:
- PLoS ONE, 2009, v. 4, n. 1, p. 1, doi. 10.1371/journal.pone.0004292
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- Publication type:
- Article
Parathyroidectomy as a therapeutic tool for targeting the recommended NKF-K/DOQITM ranges for serum calcium, phosphate and parathyroid hormone in dialysis patients.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 7, p. 2319, doi. 10.1093/ndt/gfm931
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- Publication type:
- Article
Serum levels of calcification inhibition proteins and coronary artery calcium score: comparison between transplantation and dialysis.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Teaching Pediatric Laboratory Medicine to Pathology Residents.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2006, v. 130, n. 7, p. 1031, doi. 10.5858/2006-130-1031-tplmtp
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- Publication type:
- Article
Pharmacological rescue of carnitine transport in primary carnitine deficiency.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 513, doi. 10.1002/humu.20314
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- Publication type:
- Article
Changes in bone turnover after parathyroidectomy in dialysis patients: role of calcitriol administration.
- Published in:
- Nephrology Dialysis Transplantation, 2000, v. 15, n. 6, p. 877, doi. 10.1093/ndt/15.6.877
- By:
- Publication type:
- Article