Search Results - "Ericson, Karen L"

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia by Sutton, Roger AL, Mumm, Steven, Coburn, Stephen P, Ericson, Karen L, Whyte, Michael P

“…We report a 55‐year‐old woman who suffered atypical subtrochanteric femoral fractures (ASFFs) after 4 years of exposure to alendronate and then zolendronate…”
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Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) by Wenkert, Deborah, McAlister, William H, Coburn, Stephen P, Zerega, Janice A, Ryan, Lawrence M, Ericson, Karen L, Hersh, Joseph H, Mumm, Steven, Whyte, Michael P

“…Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue‐nonspecific isoenzyme of alkaline phosphatase (TNSALP)…”
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Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T > C, p.M226T; c.1112C > T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene by Baumgartner-Sigl, Sara, Haberlandt, Edda, Mumm, Steven, Scholl-Bürgi, Sabine, Sergi, Consolato, Ryan, Lawrence, Ericson, Karen L, Whyte, Michael P, Högler, Wolfgang

“…Abstract Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B6 ) in hypophosphatasia (HPP) are incompletely understood. Typically,…”
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Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients by Whyte, Michael P., Zhang, Fan, Wenkert, Deborah, McAlister, William H., Mack, Karen E., Benigno, Marci C., Coburn, Stephen P., Wagy, Susan, Griffin, Donna M., Ericson, Karen L., Mumm, Steven

“…Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes the “tissue-nonspecific” isoenzyme of alkaline phosphatase…”
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Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients by Whyte, Michael P, Zhang, Fan, Wenkert, Deborah, McAlister, William H, Mack, Karen E, Benigno, Marci C, Coburn, Stephen P, Wagy, Susan, Griffin, Donna M, Ericson, Karen L, Mumm, Steven

“…Abstract Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) within the gene TNSALP that encodes the “tissue-nonspecific” isoenzyme of alkaline…”
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Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology by Whyte, Michael P., Coburn, Stephen P., Ryan, Lawrence M., Ericson, Karen L., Zhang, Fan

“…Hypophosphatasia (HPP) is the inborn-error-of-metabolism due to loss-of-function mutation(s) of the ALPL (TNSALP) gene that encodes the tissue non-specific…”
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Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism by Whyte, Michael P., Zhang, Fan, Mack, Karen E., Wenkert, Deborah, Gottesman, Gary S., Ericson, Karen L., Cole, Jeffrey T., Coburn, Stephen P.

“…Alkaline phosphatase (ALP) is detected in most human tissues. However, ALP activity is routinely assayed using high concentrations of artificial colorimetric…”
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Hypophosphatasia: Vitamin B 6 status of affected children and adults by Whyte, Michael P, Zhang, Fan, Wenkert, Deborah, Mack, Karen E, Bijanki, Vinieth N, Ericson, Karen L, Coburn, Stephen P

“…Hypophosphatasia (HPP) is the heritable dento-osseous disease caused by loss-of-function mutation(s) of the gene ALPL that encodes the tissue-nonspecific…”
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Hypophosphatasia: Vitamin B6 status of affected children and adults by Whyte, Michael P., Zhang, Fan, Wenkert, Deborah, Mack, Karen E., Bijanki, Vinieth N., Ericson, Karen L., Coburn, Stephen P.

“…Hypophosphatasia (HPP) is the heritable dento-osseous disease caused by loss-of-function mutation(s) of the gene ALPL that encodes the tissue-nonspecific…”
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Vitamin B6 deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia by Whyte, Michael P., May, Jennifer D., McAlister, William H., Burgener, Katherine, Cortez, Samuel R., Kreienkamp, Raymond, Castro, Olivia, Verzola, Rachel, Zavala, Ana Solis, McPherson, Christopher C., Gottesman, Gary S., Ericson, Karen L., Coburn, Stephen P., Arbelaez, Ana Maria

“…Pyridoxal 5′-phosphate (PLP), the principal circulating form of vitamin B6 (B6), is elevated in the plasma of individuals with hypophosphatasia (HPP). HPP is…”
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Vitamin B 6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia by Whyte, Michael P, May, Jennifer D, McAlister, William H, Burgener, Katherine, Cortez, Samuel R, Kreienkamp, Raymond, Castro, Olivia, Verzola, Rachel, Zavala, Ana Solis, McPherson, Christopher C, Gottesman, Gary S, Ericson, Karen L, Coburn, Stephen P, Arbelaez, Ana Maria

“…Pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B (B ), is elevated in the plasma of individuals with hypophosphatasia (HPP). HPP is…”
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Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy by Whyte, Michael P., Ma, Nina S., Mumm, Steven, Gottesman, Gary S., McAlister, William H., Nenninger, Angela R., Bijanki, Vinieth N., Ericson, Karen L., Magnusson, Per

“…Alkaline phosphatase (ALP) in humans comprises a family of four cell-surface phosphomonoester phosphohydrolase isozymes. Three genes separately encode the…”
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Use of chlorite to improve HPLC detection of pyridoxal 5′-phosphate by Ericson, Karen L., Mahuren, J. Dennis, Zubovic, Yvonne M., Coburn, Stephen P.

“…The sensitivity of fluorescent detection of the biologically active form of Vitamin B-6, pyridoxal 5′-phosphate (PLP), in biological samples has been improved…”
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Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy by Otero, Jesse E, Gottesman, Gary S, McAlister, William H, Mumm, Steven, Madson, Katherine L, Kiffer‐Moreira, Tina, Sheen, Campbell, Millán, José Luis, Ericson, Karen L, Whyte, Michael P

“…Generalized arterial calcification (AC) of infancy (GACI) is an autosomal recessive disorder that features hydroxyapatite deposition within arterial elastic…”
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Autosomal Recessive Hypophosphatasia Manifesting in Utero with Long Bone Deformity but Showing Spontaneous Postnatal Improvement by Stevenson, David A., Carey, John C., Coburn, Stephen P., Ericson, Karen L., Byrne, Janice L. B., Mumm, Steven, Whyte, Michael P.

“…Context: Hypophosphatasia (HPP) is a heritable metabolic disorder of the skeleton that includes variable expressivity conditioned by gene dosage effect and the…”
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Stability of analytes related to clinical chemistry and bone metabolism in blood specimens after delayed processing by Zwart, Sara R., Wolf, Megan, Rogers, Ann, Rodgers, Shanna, Gillman, Patti L., Hitchcox, Kristen, Ericson, Karen L., Smith, Scott M.

“…We investigated the stability of 36 analytes related to clinical chemistry in a controlled storage study. Blood was collected from 11 subjects and was…”
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N-Methylpyridoxamine : Novel canine vitamin B6 urine metabolite by ERICSON, Karen L, MALONEY, Vincent M, MAHUREN, J. Dennis, COBURN, Stephen P, DEGENHARDT, Thorsten P

“…Cation-exchange HPLC analysis of urine from dogs given large daily doses of pyridoxamine revealed an unidentified metabolite hypothesized to be…”
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Elevated plasma 4-pyridoxic acid in renal insufficiency by COBURN, Stephen P, REYNOLDS, Robert D, FINK, William J, PEARSON, David R, PAULY, Thomas A, THAMPY, K. George, WORTSMAN, Jacobo, MAHUREN, J. Dennis, SCHALTENBRAND, Wayne E, YAO WANG, ERICSON, Karen L, WHYTE, Michael P, ZUBOVIC, Yvonne M, ZIEGLER, Paula J, COSTILL, David L

“…Renal insufficiency is associated with altered vitamin B-6 metabolism. We have observed high concentrations of 4-pyridoxic acid, the major catabolite of…”
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Bone Metabolic Abnormalities Associated with Well-Controlled Type 1 Diabetes (IDDM) in Young Adult Women: A Disease Complication Often Ignored or Neglected by Massé, Priscilla G, Pacifique, Maïsha B, Tranchant, Carole C, Arjmandi, Barham H, Ericson, Karen L, Donovan, Sharon M, Delvin, Edgard, Caissie, Marcel

“…OBJECTIVES: This investigation on a homogenous cohort of young adult Caucasian type 1 diabetic (IDDM) patients (1) aimed at studying the occurrence of low bone…”
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Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B 6 metabolism by Whyte, Michael P, Zhang, Fan, Mack, Karen E, Wenkert, Deborah, Gottesman, Gary S, Ericson, Karen L, Cole, Jeffrey T, Coburn, Stephen P

“…Alkaline phosphatase (ALP) is detected in most human tissues. However, ALP activity is routinely assayed using high concentrations of artificial colorimetric…”
Get full text