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Summary
HYPOPARATHYROIDISM, X-LINKED HYPX
PARATHYROID GLANDS, AGENESIS OF
307700
OMIM = Online Medalian Inheritance of Men
2238
Xq26-q27
rare
X-linked
symptoms
onset, neonatal
seizures
tetany
laboratory finding
Calcium decreasedserum
Phosphate increasedserum
Parathyroid hormone (PTH) decreasedserum
Literature
Davit-Spraul A,et al.Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studiesMol Genet Metab1041137-1432011
Br+€ser A,Kirchberger J, Sch+Âneberg TAltered allosteric regulation of muscle 6-phosphofructokinase causes Tarui diseaseBiochem Biophys Res Commun4271133-1372012