Open AccessMaternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation
Author(s) -
Michael Jakoby,
Amruta Jaju,
Aundrea Marsh,
Andrew Wilber
Publication year - 2021
Publication title -
journal of investigative medicine high impact case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 10
ISSN - 2324-7096
DOI - 10.1177/23247096211019543
Subject(s) - carnitine , missense mutation , endocrinology , solute carrier family , medicine , mutation , compound heterozygosity , newborn screening , congenital hypothyroidism , genetics , biology , thyroid , transporter , gene , pediatrics
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