4.4 Editorial Material

Quo vadis: the re-definition of inborn metabolic diseases

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

An overview of inborn errors of complex lipid biosynthesis and remodelling

Foudil Lamari et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2015)

Editorial Material Endocrinology & Metabolism

Disease severity and clinical outcome in phosphosglucomutase deficiency

Eva Morava et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2015)

Editorial Material Endocrinology & Metabolism

Complex lipids

Jean-Marie Saudubray et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2015)

Article Endocrinology & Metabolism

Glutathione metabolism in cobalamin deficiency type C (cblC)

Anna Pastore et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Review Endocrinology & Metabolism

Skin manifestations in CDG

D. Rymen et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Endocrinology & Metabolism

Congenital disorders of glycosylation: new defects and still counting

Kyle Scott et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2014)

Article Genetics & Heredity

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Johannes A. Mayr et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Medicine, General & Internal

Mitochondrial diseases

Anthony H. V. Schapira

LANCET (2012)

Article Endocrinology & Metabolism

Primary and secondary defects of the mitochondrial respiratory chain

AHV Schapira

JOURNAL OF INHERITED METABOLIC DISEASE (2002)