JIM 2024; 1 (3): e597
DOI: 10.61012_20248_597

Spinal muscular atrophy and the impact of newborn screening in patient management: a narrative review

JIM 2024; 1 (3): e593
DOI: 10.61012_20248_593

Therapeutic approach to pediatric patients with classic Fabry disease: towards a new paradigm

JIM 2024; 1 (3): e590
DOI: 10.61012_20248_590

Potential approaches for the treatment of Marinesco–Sjögren syndrome

JIM 2024; 1 (3): e588
DOI: 10.61012_20248_588

Investigating the current state of the Italian workforce in the context of inherited metabolic diseases: an in-depth survey of dietitians across the country

JIM 2024; 1 (3): e586
DOI: 10.61012_20248_586

Eye movement desensitization and reprocessing treatment: new psychotherapeutic perspectives in the context of metabolic diseases

JIM 2024; 1 (2): e541
DOI: 10.61012_20245_541

Selective screening vs. neonatal screening in infantile onset Pompe disease: a case series

JIM 2024; 1 (2): e539
DOI: 10.61012_20245_539

Newborn screening, diagnosis, and management of inherited metabolic disorders: status and progress of the southern Mediterranean countries

JIM 2024; 1 (2): e537
DOI: 10.61012_20245_537

Supportive care in adults with Fabry disease: low-cost interventions for high-value achievements

JIM 2024; 1 (2): e532
DOI: 10.61012_20245_532

Special low protein foods in the management of Inborn Errors of Metabolism: overview on availability, composition and comparison with regular foods in Italy

Topic: Dietetics   Category:

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JIM 2024; 1 (2): e530
DOI: 10.61012_20245_530

Psychological instruments to assess parental stress and coping strategies in inherited metabolic diseases: a systematic review

Topic: Psychology   Category:

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JIM 2024; 1 (1): e460
DOI: 10.61012_20242_460

Rhabdomyolysis in clinical practice

JIM 2024; 1 (1): e458
DOI: 10.61012_20242_458

Biotinidase deficiency: outcomes of 37 years-experience of newborn screening in Turin, Italy