Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease

Review Endocrinology & Metabolism

Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes

Alejandro Garanto et al.

Summary: Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs), with retinal degeneration being the most common phenotype. These ocular manifestations provide valuable clues for diagnosis.

MOLECULAR GENETICS AND METABOLISM (2022)

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Article Endocrinology & Metabolism

An international classification of inherited metabolic disorders (ICIMD)

Carlos R. Ferreira et al.

Summary: The International Classification of Inherited Metabolic Disorders (ICIMD) is a comprehensive classification system involving input from a large number of experts and endorsement from major metabolic societies globally. It aims to improve understanding of the interconnections between different conditions sharing similar characteristics, and guarantees continued relevance through regular curation and expert advice.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Review Endocrinology & Metabolism

Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease

Carlos R. Ferreira et al.

Summary: Inherited metabolic diseases make up a significant portion of pediatric cardiomyopathy cases, with a high mortality rate. These diseases can also lead to other cardiovascular complications such as arrhythmias and vasculopathies. The authors compiled a list of metabolic diseases associated with cardiovascular issues in order to aid in clinical and metabolic differential diagnoses.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Medicine, General & Internal

Hearing loss prevalence and years lived with disability, 1990–2019: findings from the Global Burden of Disease Study 2019

Lydia M Haile et al.

LANCET (2021)

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Article Endocrinology & Metabolism

Hearing loss in inherited metabolic disorders: A systematic review

T-T Trinh et al.

Summary: This review examines the relationship between inherited metabolic disorders (IMDs) and hearing loss (HL) to provide additional clinical tools for better diagnosing syndromic HL.

METABOLISM-CLINICAL AND EXPERIMENTAL (2021)

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Review Endocrinology & Metabolism

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses

Carlos R. Ferreira et al.

Summary: Cutaneous signs and symptoms can aid in the diagnosis or identification of complications in inherited metabolic diseases. These manifestations are grouped into various categories, providing a comprehensive list of clinical and metabolic differential diagnoses for different disease systems.

MOLECULAR GENETICS AND METABOLISM (2021)

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Article Endocrinology & Metabolism