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. Author manuscript; available in PMC: 2022 Sep 1.
Published in final edited form as: Mol Genet Metab. 2021 Jul 21;134(1-2):87–95. doi: 10.1016/j.ymgme.2021.07.005

Table 1.

Biochemical investigations in metabolic diseases affecting skin, hair and nails.

Basic tests Profiles Special tests

Blood count Amino acids (P, U) Copper (S, U)
ASAT/ALAT (P) Organic acids (U) Transferrin (S)
CK (P) Acylcarnitines (DBS, P) Iron (S)
ALP (P) Sialotransferins (S) Ferritin (S)
Lactate (P) Sterols (P) Carnitine (P)
Glucose (P) VLCFA (P) Glycogen (L)
Ammonia (B) Lipid panel (S) Lysosomal Enzymes (S)
Coagulation factors Monogenic (CSF) Neopterin (CSF)
Porphyrins (U) Vitamins (S)
Interferon-alpha (CSF)