English Kocher–Debre–Semelaigne syndrome Cited by user WikEric7 on 10 Jul 2023 Kocher–Debré–Semelaigne syndrome (KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short…
English Glycogen storage disease Cited by user Citation bot on 09 Jul 2023 A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen…
English Hoffmann syndrome Cited by user Citation bot on 12 Jun 2023 Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy).