16 results on '"Frigeni, Marta"'
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2. Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8
3. Evaluation of Quality of Life in First‐Degree Relatives of Patients With Hidradenitis Suppurativa Using Family Dermatology Life Quality Index: QoL in First‐Degree Relatives of Patients With HS.
4. NOVEL VARIANTS IDENTIFIED IN TWO SIBLINGS WITH MUCOPOLYSACCHARIDOSIS TYPE IIIC: THE ROLE OF FUNCTIONAL STUDIES IN CONFIRMING PATHOGENICITY
5. PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC ACID ON NATURAL MUTATIONS
6. Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia
7. MPSI Manifestations and Treatment Outcome: Skeletal Focus
8. Functional and molecular studies in primary carnitine deficiency
9. Clinical and biochemical outcomes in cobalamin C deficiency with use of high‐dose hydroxocobalamin in the early neonatal period
10. The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report
11. Surface Electromyographic Mapping of the Orbicularis Oculi Muscle for Real-Time Blink Detection
12. Clinical and biochemical outcome with parenteral hydroxocobalamin mega-dosing in cobalamin C deficiency
13. Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts
14. Carnitine transport and fatty acid oxidation
15. Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter
16. eP225 - Clinical and biochemical outcome with parenteral hydroxocobalamin mega-dosing in cobalamin C deficiency.
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