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Acid phosphatase deficiency
- ... Janckila A, Lebon P, Crow YJ. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a ... Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. ...
- ... Janckila A, Lebon P, Crow YJ. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a ... Unger S, Zabel B, Superti-Furga A. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. ...
- ... dehydrogenase complex deficiency. Structural implications of novel amino acid ... phosphatase deficiency: identification of the first mutation in two brothers ...
- ... very rare cause of this condition. Pyruvate dehydrogenase deficiency is ... dehydrogenase phosphatase 1 protein, which is thought to change its ...
- ... Registry: Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Genetic Testing Registry: Glycogen storage disease, ... I Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Glycogen storage disease due to glucose- ...
- ... Roach AA, Roach PJ. Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen ...
- ... Y, Kinoshita T. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J ...