Found: 62
Select item for more details and to access through your institution.
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.
- Published in:
- 2017
- By:
- Publication type:
- journal article
On non stress-free junctions between martensitic plates.
- Published in:
- Interfaces & Free Boundaries, 2020, v. 22, n. 3, p. 251, doi. 10.4171/IFB/441
- By:
- Publication type:
- Article
Restless legs syndrome in DNAJC12 deficiency.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 2167, doi. 10.1007/s10072-023-06733-9
- By:
- Publication type:
- Article
Remittent hyperammonemia in congenital portosystemic shunt.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Supporting operational site‐specific fertilization in rice cropping systems with infield smartphone measurements and Sentinel-2 observations.
- Published in:
- Precision Agriculture, 2021, v. 22, n. 4, p. 1284, doi. 10.1007/s11119-021-09784-0
- By:
- Publication type:
- Article
Genealogy of breastfeeding.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
- By:
- Publication type:
- Article
Inter & Intra-Observer Reliability Of Grading Ultrasound Videoclips With Hand Pathology In Rheumatoid Arthritis By Using Non- Sophisticated Internet Tools (LUMINA Study).
- Published in:
- Medical Ultrasonography, 2014, v. 16, n. 1, p. 32, doi. 10.11152/mu.2014.2066.161.vv1fb2
- By:
- Publication type:
- Article
Ultrasonography of the hip.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Ultrasonography of the Hip.
- Published in:
- Medical Ultrasonography, 2012, v. 14, n. 3, p. 217
- By:
- Publication type:
- Article
Ultrasound of the shoulder.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Ultrasound assessment of the elbow.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Ultrasound assessment of the elbow.
- Published in:
- Medical Ultrasonography, 2012, v. 14, n. 2, p. 141
- By:
- Publication type:
- Article
Ultrasound of the shoulder.
- Published in:
- Medical Ultrasonography, 2012, v. 14, n. 2, p. 133
- By:
- Publication type:
- Article
Ultrasound of the hand and wrist in rheumatology.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Ultrasound of the ankle and foot in rheumatology.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Ultrasound of the ankle and foot in rheumatology.
- Published in:
- Medical Ultrasonography, 2012, v. 14, n. 1, p. 34
- By:
- Publication type:
- Article
Ultrasound of the hand and wrist in rheumatology.
- Published in:
- Medical Ultrasonography, 2012, v. 14, n. 1, p. 42
- By:
- Publication type:
- Article
Bone Impairment in Phenylketonuria Is Characterized by Circulating Osteoclast Precursors and Activated T Cell Increase.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0014167
- By:
- Publication type:
- Article
Neonatal phenylalanine wash-out in phenylketonuria.
- Published in:
- Metabolic Brain Disease, 2020, v. 35, n. 7, p. 1225, doi. 10.1007/s11011-020-00602-6
- By:
- Publication type:
- Article
Playing competitive basketball in face of late-onset pompe disease.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 2, p. 302, doi. 10.1002/mus.24522
- By:
- Publication type:
- Article
Analysis of a Moving Mask Hypothesis for Martensitic Transformations.
- Published in:
- Journal of Nonlinear Science, 2019, v. 29, n. 5, p. 2341, doi. 10.1007/s00332-019-09546-3
- By:
- Publication type:
- Article
Convex integration solutions for the geometrically nonlinear two-well problem with higher Sobolev regularity.
- Published in:
- Mathematical Models & Methods in Applied Sciences, 2020, v. 30, n. 3, p. 611, doi. 10.1142/S0218202520500153
- By:
- Publication type:
- Article
A model for the evolution of highly reversible martensitic transformations.
- Published in:
- Mathematical Models & Methods in Applied Sciences, 2019, v. 29, n. 3, p. 493, doi. 10.1142/S0218202519500143
- By:
- Publication type:
- Article
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 2, p. 261, doi. 10.1515/jpem-2020-0139
- By:
- Publication type:
- Article
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1519, doi. 10.1515/jpem-2020-0319
- By:
- Publication type:
- Article
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 101, doi. 10.1515/jpem-2018-0311
- By:
- Publication type:
- Article
Columbus' egg: a practical approach to nutritional management in maple syrup urine disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 1, p. 83, doi. 10.1515/jpem-2018-0485
- By:
- Publication type:
- Article
Early higher dosage of alglucosidase alpha in classic Pompe disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1343, doi. 10.1515/jpem-2018-0336
- By:
- Publication type:
- Article
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01782-y
- By:
- Publication type:
- Article
Longitudinal ultrasound and clinical follow-up of Baker's cysts injection with steroids in knee osteoarthritis.
- Published in:
- Clinical Rheumatology, 2012, v. 31, n. 4, p. 727, doi. 10.1007/s10067-011-1909-9
- By:
- Publication type:
- Article
Graphene at Liquid Copper Catalysts: Atomic‐Scale Agreement of Experimental and First‐Principles Adsorption Height.
- Published in:
- Advanced Science, 2022, v. 9, n. 36, p. 1, doi. 10.1002/advs.202204684
- By:
- Publication type:
- Article
Definition and Reliability Assessment of Elementary Ultrasonographic Findings in Calcium Pyrophosphate Deposition Disease: A Study by the OMERACT Calcium Pyrophosphate Deposition Disease Ultrasound Subtask Force.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Interfacial energy as a selection mechanism for minimizing gradient Young measures in a one-dimensional model problem.
- Published in:
- ESAIM: Control, Optimisation & Calculus of Variations, 2019, v. 25, p. 1, doi. 10.1051/cocv/2018050
- By:
- Publication type:
- Article
Differential response to renal replacement therapy in neonatal‐onset inborn errors of metabolism.
- Published in:
- Nephrology, 2018, v. 23, n. 10, p. 957, doi. 10.1111/nep.13409
- By:
- Publication type:
- Article
The Italian MSUS Study Group recommendations for the format and content of the report and documentation in musculoskeletal ultrasonography in rheumatology.
- Published in:
- Rheumatology, 2014, v. 53, n. 2, p. 367
- By:
- Publication type:
- Article
The new frontiers of ultrasound in the complex world of vasculitides and scleroderma.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
The new frontiers of ultrasound in the complex world of vasculitides and scleroderma.
- Published in:
- Rheumatology, 2012, v. 51, n. suppl_7, p. vii26, doi. 10.1093/rheumatology/kes336
- By:
- Publication type:
- Article
The role of Doppler ultrasound in rheumatic diseases.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
The role of Doppler ultrasound in rheumatic diseases.
- Published in:
- Rheumatology, 2012, v. 51, n. 6, p. 976, doi. 10.1093/rheumatology/ker433
- By:
- Publication type:
- Article
CONVECTIVE NONLOCAL CAHN-HILLIARD EQUATIONS WITH REACTION TERMS.
- Published in:
- Discrete & Continuous Dynamical Systems - Series B, 2015, v. 20, n. 5, p. 1529, doi. 10.3934/dcdsb.2015.20.1529
- By:
- Publication type:
- Article
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
- By:
- Publication type:
- Article
Obituary for Prof. Alberto Ponzone.
- Published in:
- 2022
- By:
- Publication type:
- Obituary
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 916, doi. 10.1002/jimd.12368
- By:
- Publication type:
- Article
In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27–31).
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 584, doi. 10.1007/s10545-009-9959-8
- By:
- Publication type:
- Article
Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity.
- Published in:
- Pediatric Blood & Cancer, 2018, v. 65, n. 2, p. n/a, doi. 10.1002/pbc.26811
- By:
- Publication type:
- Article
Exact Constructions in the (Non-linear) Planar Theory of Elasticity: From Elastic Crystals to Nematic Elastomers.
- Published in:
- Archive for Rational Mechanics & Analysis, 2020, v. 237, n. 1, p. 383, doi. 10.1007/s00205-020-01511-9
- By:
- Publication type:
- Article