Search Results - "Coburn, Stephen P"

“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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Roscovitine Targets, Protein Kinases and Pyridoxal Kinase[boxs] by Bach, Stéphane, Knockaert, Marie, Reinhardt, Jens, Lozach, Olivier, Schmitt, Sophie, Baratte, Blandine, Koken, Marcel, Coburn, Stephen P., Tang, Lin, Jiang, Tao, Liang, Dong-cai, Galons, Hervé, Dierick, Jean-Francois, Pinna, Lorenzo A., Meggio, Flavio, Totzke, Frank, Schächtele, Christoph, Lerman, Andrea S., Carnero, Amancio, Wan, Yongqin, Gray, Nathanael, Meijer, Laurent

“…(R)-Roscovitine (CYC202) is often referred to as a “selective inhibitor of cyclin-dependent kinases.” Besides its use as a biological tool in cell cycle,…”
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Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts by Cahill, Richard A., Wenkert, Deborah, Perlman, Sharon A., Steele, Ann, Coburn, Stephen P., McAlister, William H., Mumm, Steven, Whyte, Michael P.

“…Background: Hypophosphatasia (HPP) is a rare, heritable, metabolic bone disease due to deficient activity of the tissue-nonspecific isoenzyme of alkaline…”
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Chronic Recurrent Multifocal Osteomyelitis Mimicked in Childhood Hypophosphatasia by Whyte, Michael P, Wenkert, Deborah, McAlister, William H, Mughal, M Zulf, Freemont, Anthony J, Whitehouse, Richard, Baildam, Eileen M, Coburn, Stephen P, Ryan, Lawrence M, Mumm, Steven

“…Hypophosphatasia (HPP) is the inborn error of metabolism characterized by low serum alkaline phosphatase (ALP) activity caused by inactivating mutations within…”
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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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Marrow Cell Transplantation for Infantile Hypophosphatasia by Whyte, Michael P, Kurtzberg, Joanne, McALISTER, William H, Mumm, Steven, Podgornik, Michelle N, Coburn, Stephen P, Ryan, Lawrence M, Miller, Cindy R, Gottesman, Gary S, Smith, Alan K, Douville, Judy, Waters‐Pick, Barbara, Armstrong, R Douglas, Martin, Paul L

“…An 8‐month‐old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of…”
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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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Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6 by Waymire, K.G. (Emory University School of Medicine, Atlanta, GA.), Mahuren, J.D, Jaje, J.M, Guilarte, T.R, Coburn, S.P, MacGregor, G.R

“…In humans, deficiency of the tissue non-specific alkaline phosphatase (TNAP) gene is associated with defective skeletal mineralization. In contrast, mice…”
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Enhancement of Calcium/Vitamin D Supplement Efficacy by Administering Concomitantly Three Key Nutrients Essential to Bone Collagen Matrix for the Treatment of Osteopenia in Middle-Aged Women: A One-Year Follow-Up by Masse, Priscilla G., Jougleux, Jean-Luc, Tranchant, Carole C., Dosy, Juliana, Caissie, Marcel, Coburn, Stephen P.

“…Two vitamins and proline (CB6Pro), three nutrients essential for bone collagen, were used in combination to a 1000 mg calcium/250 IU vitamin D (Ca/D) daily…”
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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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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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Vitamin B-6 Metabolism and Interactions with TNAP by Coburn, Stephen P

“…Two observations stimulated the interest in vitamin B-6 and alkaline phosphatase in brain: the marked increase in plasma pyridoxal phosphate and the occurrence…”
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Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia by Fedde, Kenton N., Blair, Libby, Silverstein, Julie, Coburn, Stephen P., Ryan, Lawrence M., Weinstein, Robert S., Waymire, Katrina, Narisawa, Sonoko, Millán, José L., Macgregor, Grant R., Whyte, Michael P.

“…Hypophosphatasia is an inborn error of metabolism characterized by deficient activity of the tissue‐nonspecific isoenzyme of alkaline phosphatase (TNSALP) and…”
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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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