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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Downloaded 54 times

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

JIM 2024; 1 (1): e456
DOI: 10.61012_20242_456

Second-tier tests do not always require chromatographic separation: the case of hydroxylated and dicarboxylic acyl-carnitine couples

Topic: Laboratory   Category:

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JIM 2024; 1 (1): e454
DOI: 10.61012_20242_454

Dietary management practices in phenylketonuria: results of an Italian multicentric survey and comparison with the European guidelines

Topic: Dietetics   Category:

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JIM 2024; 1 (1): e452
DOI: 10.61012_20242_452

Long-term psychological support for families receiving communication of positivity for metabolic diseases at newborn screening

Topic: Psychology   Category:

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