Review


JIM 2026; 3 (1): e1121
DOI: 10.61012_20262_1121

From red flags to diagnosis: a hepatologist’s guide to Gaucher disease and acid sphingomyelinase deficiency in adults – insights from the Italian “Closer to Care” initiative

JIM 2026; 3 (1): e1123
DOI: 10.61012_20262_1123

Bone complications in Gaucher disease: a narrative review

JIM 2026; 3 (1): e1125
DOI: 10.61012_20262_1125

Unveiling gut microbiota signatures linked to the ketogenic dietary therapy

JIM 2025; 2 (1): e709
DOI: 10.61012_20252_709

Genotype and phenotype of subjects with Tangier disease developing cardiovascular disease

JIM 2024; 1 (4): e634
DOI: 10.61012_202411_634

Acid sphingomyelinase deficiency: a complex and rare disorder that needs clinicians’ awareness

JIM 2024; 1 (4): e630
DOI: 10.61012_202411_630

Galactosemia: insights into newborn screening strategies

JIM 2024; 1 (3): e595
DOI: 10.61012_20248_595

An overview of current dietary options for patients with glycogen storage diseases: impact on gut microbiota and oxy-inflammatory status

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): e590
DOI: 10.61012_20248_590

Potential approaches for the treatment of Marinesco–Sjögren syndrome

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): 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