Enzyme Sample List

Catalog ID	Description	Specimen Assayed	Remark
GM01571	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM01571	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM03336	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03459	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM03459	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	serum	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03502	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM03859	HYPOPHOSPHATASIA, INFANTILE	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM04235	HYPOPHOSPHATASIA, INFANTILE	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM04235	HYPOPHOSPHATASIA, INFANTILE	serum	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08371	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	serum	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08372	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	serum	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08581	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08690	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM08697	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	serum	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM08698	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	serum	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM09032	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM09033	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM09442	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	Weiss et al (Am J Hum Genet 44:686-694 1989) reported that this fibroblast culture from an individual affected with Hypophosphatasia had deficient liver/bone/kidney alkaline phosphatase activity but expressed apparently full-sized liver/bone/kidney mRNA at normal levels. Southern blot analysis of the liver/bone/kidney alkaline phosphatase gene revealed identical restriction patterns for this individual and normal controls.
GM09919	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510		According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM10403	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	amniotic fluid	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM10474	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM10507	HYPOPHOSPHATASIA; PHOSPHOETHANOLAMINURIA - 241500 OR 241510	fibroblasts	According to the submitter, biochemical test results for this subject showed decreased enzyme activity.
GM20255	HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT		According to the submitter, biochemical test results for this subject showed increased enzyme activity.
GM20926	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM21751	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM21752	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM21827	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM21829	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22028	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22029	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22040	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22041	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22078	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22079	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22084	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22085	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22237	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22238	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22239	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22240	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22245	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22246	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22247	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22248	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22368	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22369	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22393	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22394	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed increased enzyme activity.
GM22395	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22396	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22549	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22550	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22551	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22554	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22578	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22580	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22582	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22599	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22600	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22660	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22661	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22756	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22757	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22762	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22763	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.
GM22764	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD		According to the submitter biochemical test results for this subject showed normal enzyme activity.