Original article


JIM 2024; 1 (4): e632
DOI: 10.61012_202411_632

Hereditary fructose intolerance in adults: from differential diagnosis to long-term management. A report from the Florence cohort

JIM 2024; 1 (4): e628
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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 (2): e541
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Selective screening vs. neonatal screening in infantile onset Pompe disease: a case series

JIM 2024; 1 (2): e539
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Newborn screening, diagnosis, and management of inherited metabolic disorders: status and progress of the southern Mediterranean countries

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 (1): e458
DOI: 10.61012_20242_458

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

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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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