Search Results - "Lockitch, G"

A new mutation (G51C) in the iron‐responsive element (IRE) of l‐ferritin associated with hyperferritinaemia–cataract syndrome decreases the binding affinity of the mutated IRE for iron‐regulatory proteins by CAMASCHELLA, C, ZECCHINA, G, LOCKITCH, G, ROETTO, A, CAMPANELLA, A, AROSIO, P, LEVI, S

“…Hereditary hyperferritinaemia–cataract syndrome is an autosomal dominant disorder characterized by a constitutively increased synthesis of l‐ferritin in the…”
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Direct determination of selenium in serum by graphite-furnace atomic absorption spectrometry with deuterium background correction and a reduced palladium modifier: age-specific reference ranges by Jacobson, B E, Lockitch, G

“…We describe the development of a direct method for determination of selenium in serum by graphite-furnace atomic absorption spectrophotometry with deuterium…”
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Iron and copper-associated cirrhosis in infants. Acquired metal toxicity or genetic disorder? by Lockitch, G

“…Iron and Copper are essential trace elements for growth and development of the human infant but are toxic in excess. Lethal cirrhotic syndromes in the neonate…”
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Trace elements in nutrition for premature infants by Zlotkin, S H, Atkinson, S, Lockitch, G

“…Ten trace elements that are nutritionally essential include: zinc, copper, selenium, chromium, manganese, molybdenum, cobalt, fluoride, iodine, and iron. This…”
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Instability of the upper cervical spine in Down syndrome by Tredwell, S J, Newman, D E, Lockitch, G

“…This study of 64 Down syndrome children at British Columbia's Children's Hospital established that ligamentous laxity of the upper cervical spine may exist at…”
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Age- and sex-specific pediatric reference intervals for biochemistry analytes as measured with the Ektachem-700 analyzer by Lockitch, G, Halstead, A C, Albersheim, S, MacCallum, C, Quigley, G

“…Using the Ektachem-700 multilayer film analyzer, we defined age- and sex-specific reference intervals for 20 analytes in sera from a healthy population of…”
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Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis by Papanikolaou, George, Babakaiff, Ryan, Goldberg, Y Paul, Franchini, Patrick L, Dubé, Marie-Pierre, MacFarlane, Julie, Pape, Terry D, Radomski, Christopher C, Davidas, Owen, Risler, Jenni K, Nemeth, Elizabeta, Zaborowska, Catherine, Politou, Marianna, Lockitch, Gillian, Brissot, Pierre, Thompson, Jay, Ludwig, Erwin H, MacDonald, Marcia L E, Samuels, Mark E, Sakellaropoulos, Nikos, Ganz, Tomas, Hayden, Michael R, Andres, Lisa, Christakis, John

“…Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents…”
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Blood lead levels in children aged 24 to 36 months in Vancouver by Jin, A, Hertzman, C, Peck, S H, Lockitch, G

“…To determine the blood lead levels in children and to identify risk factors for elevated levels. Cross-sectional study. Vancouver. Random sample of children…”
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Selenium deficiency in low birth weight neonates: an unrecognized problem by Lockitch, G, Jacobson, B, Quigley, G, Dison, P, Pendray, M

“…To determine whether selenium deficiency is common among low birth weight infants in our neonatal intensive care unit, we surveyed blood samples from healthy…”
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Perinatal and pediatric nutrition by Lockitch, G

“…Nutritional deficiencies develop rapidly in the very low birth weight infants because of a lack of third-trimester accumulation of fat, minerals, trace…”
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Perspectives on lead toxicity by Lockitch, G

“…Lead toxicity causes hematological, gastrointestinal, and neurological dysfunction in adults and children. Symptoms are usually noted with blood lead greater…”
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Age- and sex-specific pediatric reference intervals: study design and methods illustrated by measurement of serum proteins with the Behring LN Nephelometer by Lockitch, G, Halstead, A C, Quigley, G, MacCallum, C

“…We analyzed blood from 450 healthy children and adolescents, ages one to 19 y, as well as term and preterm infants, to define age- and sex-specific reference…”
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Cardiomyopathy associated with nonendemic selenium deficiency in a Caucasian adolescent by Lockitch, G, Taylor, GP, Wong, LT, Davidson, AG, Dison, PJ, Riddell, D, Massing, B

“…We describe a girl aged 17 y who died after a cardiac arrest secondary to septic shock. At autopsy, the enlarged, soft, and flabby heart showed microscopic…”
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Maternal–fetal risk assessment by Lockitch, Gillian

“…In first-world countries, maternal and infant mortality has significantly decreased over the past 50 years due to factors such as skilled pregnancy care…”
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Seizures in a 10-week-old infant: lead poisoning from an unexpected source by Lockitch, G, Berry, B, Roland, E, Wadsworth, L, Kaikov, Y, Mirhady, F

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Adaptation of glutathione peroxidase assay to the Technicon RA-1000 by Jacobson, B, Quigley, G, Lockitch, G

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Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation by MATTMAN, Andre, HUNTSMAN, David, MARRA, Marco, DE SOUSA, Maria, VATCHER, Greg, LOCKITCH, Gillian, LANGLOIS, Sylvie, BUSKARD, Noel, RALSTON, Diana, BUTTERFIELD, Yaron, RODRIGUES, Pedro, JONES, Steven, PORTO, Graca

“…Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting…”
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Natural history of juvenile haemochromatosis by De Gobbi, Marco, Roetto, Antonella, Piperno, Alberto, Mariani, Raffaella, Alberti, Federica, Papanikolaou, George, Politou, Marianna, Lockitch, Gillian, Girelli, Domenico, Fargion, Silvia, Cox, Thimoty M., Gasparini, Paolo, Cazzola, Mario, Camaschella, Clara

“…Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive disorder which causes iron overload at a young age, affects both sexes…”
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Influence of maternal factors on cord and neonatal plasma micronutrient levels by Dison, P J, Lockitch, G, Halstead, A C, Pendray, M R, Macnab, A, Wittmann, B K

“…The influence of gestational length, maternal prenatal supplement and maternal levels on umbilical cord and neonatal plasma selenium, alpha-tocopherol, and…”
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Reference intervals for eight plasma proteins in preterm and term newborns by laser nephelometry by Lockitch, G, McCallum, C, Halstead, C, Pendray, M

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