Search Results - "Chuck, Gail"

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex by Franz, David Neal, Leonard, Jennifer, Tudor, Cynthia, Chuck, Gail, Care, Marguerite, Sethuraman, Gopalan, Dinopoulos, Argirios, Thomas, George, Crone, Kerry R.

“…Objective Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of hamartomas in multiple organs. Five to 15% of affected…”
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Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia by Kure, Shigeo, Kato, Kumi, Dinopoulos, Agirios, Gail, Chuck, deGrauw, Ton J., Christodoulou, John, Bzduch, Vladimir, Kalmanchey, Rozalia, Fekete, Gyorgy, Trojovsky, Alex, Plecko, Barbara, Breningstall, Galen, Tohyama, Jun, Aoki, Yoko, Matsubara, Yoichi

“…Nonketotic hyperglycinemia (NKH) is an inborn error of metabolism characterized by accumulation of glycine in body fluids and various neurological symptoms…”
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Infantile Dilated X-Linked Cardiomyopathy, G4.5 Mutations, Altered Lipids, and Ultrastructural Malformations of Mitochondria in Heart, Liver, and Skeletal Muscle by Bissler, John J, Tsoras, Monica, Göring, Harald H H, Hug, Peter, Chuck, Gail, Tombragel, Esther, McGraw, Catherine, Schlotman, James, Ralston, Michael A, Hug, George

“…Mutations in the Xq28 gene G4.5 lead to dilated cardiomyopathy (DCM). Differential splicing of G4.5 results in a family of proteins called “tafazzins” with…”
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Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis by Bissler, John J, McCormack, Francis X, Young, Lisa R, Elwing, Jean M, Chuck, Gail, Leonard, Jennifer M, Schmithorst, Vincent J, Laor, Tal, Brody, Alan S, Bean, Judy, Salisbury, Shelia, Franz, David N

“…In this open-label trial, patients with tuberous sclerosis or lymphangioleiomyomatosis — conditions with constitutive activation of signaling by the mammalian…”
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Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis by FRANZ, David Neal, BRODY, Alan, MEYER, Cristopher, LEONARD, Jennifer, CHUCK, Gail, DABORA, Sandra, SETHURAMAN, Gopalan, COLBY, Thomas V, KWIATKOWSKI, David J, MCCORMACK, Francis X

“…Lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH) produce cystic and nodular disease, respectively, in the lungs of…”
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Levetiracetam as Adjunctive Antiepileptic Therapy for Patients with Tuberous Sclerosis Complex: A Retrospective Open-Label Trial by Collins, James J., Tudor, Cynthia, Leonard, Jennifer M., Chuck, Gail, Franz, David Neal

“…Seizures are a common neurologic symptom of tuberous sclerosis complex. The use of levetiracetam as adjunctive antiepileptic therapy was assessed in 20…”
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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? by Cecil, Kim M., Salomons, Gajja S., Ball Jr, William S., Wong, Brenda, Chuck, Gail, Verhoeven, Nanda M., Jakobs, Cornelis, DeGrauw, Ton J.

“…Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the…”
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Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study by Pyne-Geithman, Gail J, deGrauw, Ton J, Cecil, Kim M, Chuck, Gail, Lyons, Melissa A, Ishida, Yukisato, Clark, Joseph F

“…To date, more than seven families have been reported who carry a mutation in the X-linked creatine-transporter (CrT) gene. The resulting lack of creatine in…”
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Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis by McCormack, Francis, Brody, Alan, Meyer, Christopher, Leonard, Jennifer, Chuck, Gail, Dabora, Sandra, Sethuraman, Gopalan, Colby, Thomas V, Kwiatkowski, David J, Franz, David N

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Anticoagulant effects on plasma coenzyme Q10 estimated by HPLC with coulometric detection by TANG, Peter H, MILES, Michael V, STEELE, Paul, DEGRAUW, Antonius, CHUCK, Gail, SCHROER, Laura, PESCE, Amadeo

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Anticoagulant effects on plasma coenzyme Q 10 estimated by HPLC with coulometric detection by Tang, Peter H, Miles, Michael V, Steele, Paul, DeGrauw, Antonius, Chuck, Gail, Schroer, Laura, Pesce, Amadeo

“…Background: The proportion of reduced coenzyme Q 10 (Q 10H 2) in total coenzyme Q 10 (TQ 10), referred to as the Q 10H 2:TQ 10 ratio, may be used as a possible…”
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Anticoagulant effects on plasma coenzyme Q(10) estimated by HPLC with coulometric detection by Tang, Peter H, Miles, Michael V, Steele, Paul, DeGrauw, Antonius, Chuck, Gail, Schroer, Laura, Pesce, Amadeo

“…The proportion of reduced coenzyme Q(10) (Q(10)H(2)) in total coenzyme Q(10) (TQ(10)), referred to as the Q(10)H(2):TQ(10) ratio, may be used as a possible…”
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Weanling and adult rats differ in fatty acid and carnitine metabolism during sepsis by Linz, David N, Garcia, Victor F, Arya, Gaira, Hug, George, Tombragel, Esther, Landrigan, Evelyn, Chuck, Gail, Tsoras, Monica, Ryan, Mary, Ziegler, Moritz M

“…Increased oxidation of fat is an important host response to sepsis, and carnitine is essential for long-chain fatty acid oxidation. Because neonates have low…”
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Chorionic Villus Ultrastructure in Type II Glycogen Storage Disease (Pompe's Disease) by Hug, G, Chuck, G, Chen, Y T, Kay, H H, Bossen, E H

“…To the Editor: Type II glycogen storage disease (Pompe's disease) is a fatal lysosomal disorder inherited in an autosomal recessive pattern and characterized…”
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Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells by Hug, G, Soukup, S, Ryan, M, Chuck, G

“…Glycogen-storage disease Type IIa is a fatal, genetically determined disease of infancy or early childhood that is characterized by deficient activity of acid…”
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PiPclifton: a new α1-antitrypsin allele in an American Negro family by Hug, George, Chuck, Gail, Fagerhol, Magne K

“…Serum specimens from eight females and two males representing three generations of an American Negro family exhibited an α1-antitrypsin phenotype that we…”
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1192 FCINCINNATI: A NEW ALPHA1-ANTITRYPSIN VARIANT IN TWO NEGRO FAMILIES by Hug, George, Chuck, Gail, Fagerhol, Magne K

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Pi Zpratt : A new alpha1-antitrypsin allele in an American negro family by Hug, George, Chuck, Gail, Bowles, Brian, Fagerhol, Magne K.

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Pi Ecincinnati: A new alpha1-antitrypsin allele in three negro families by Hug, G., Chuck, Gail, Slemmer, T.M., Fagerhol, Magne K.

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Alpha1-Antitrypsin Phenotype: Transient Cathodal Shift in Serum of Infant Girl with Urinary Cytomegalovirus and Fatty Liver by Hug, George, Chuck, Gail, Bowles, Brian

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