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1. Full Text Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
by Tegtmeyer, Laura C and Rust, Stephan and van Scherpenzeel, Monique and Ng, Bobby G and Losfeld, Marie-Estelle and Timal, Sharita and Raymond, Kimiyo and He, Ping and Ichikawa, Mie and Veltman, Joris and Huijben, Karin and Shin, Yoon S and Sharma, Vandana and Adamowicz, Maciej and Lammens, Martin and Reunert, Janine and Witten, Anika and Schrapers, Esther and Matthijs, Gert and Jaeken, Jaak and Rymen, Daisy and Stojkovic, Tanya and Laforêt, Pascal and Petit, François and Aumaître, Olivier and Czarnowska, Elzbieta and Piraud, Monique and Podskarbi, Teodor and Stanley, Charles A and Matalon, Reuben and Burda, Patricie and Seyyedi, Soraya and Debus, Volker and Socha, Piotr and Sykut-Cegielska, Jolanta and van Spronsen, Francjan and de Meirleir, Linda and Vajro, Pietro and DeClue, Terry and Ficicioglu, Can and Wada, Yoshinao and Wevers, Ron A and Vanderschaeghe, Dieter and Callewaert, Nico and Fingerhut, Ralph and van Schaftingen, Emile and Freeze, Hudson H and Morava, Eva and Lefeber, Dirk J and Marquardt, Thorsten
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Two brothers with an undefined congenital disorder of glycosylation were found to have phosphoglucomutase 1 deficiency, which has previously been described as... 
MUSCLE GLYCOGENOSIS | MEDICINE, GENERAL & INTERNAL | THERAPY | GLYCOGEN-STORAGE-DISEASE | GLUCOSE | NUCLEOTIDE SUGARS | CONGENITAL DISORDERS | DILATED CARDIOMYOPATHY | GLYCOSYLATION | IDENTIFICATION | CHILDREN | Physiological aspects | Glycosylation | Genetic aspects | Genetic disorders | Research | Phosphoglucomutase | Growth rate | Cardiomyopathy | Genotype & phenotype | Polysaccharides | Glycogenosis | Enzymatic activity | Metabolites | Fibroblasts | Carbohydrates | Enzymes | Phenotypes | Congenital diseases | Malignant hyperthermia | Glycogen | Dietary supplements | Mass spectroscopy | N-glycans | Hypoglycemia | Hypogonadism | Hereditary diseases | Dilated cardiomyopathy | Mutation | Gene mapping | Galactose | Hyperthermia | Myopathy
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2. Full Text Multiple phenotypes in phosphoglucomutase 1 deficiency
by Tegtmeyer, Laura C and Rust, Stephan and van Scherpenzeel, Monique and Ng, Bobby G and Losfeld, Marie-Estelle and Timal, Sharita and Raymond, Kimiyo and He, Ping and Ichikawa, Mie and Veltman, Joris and Huijben, Karin and Shin, Yoon S and Sharma, Vandana and Adamowicz, Maciej and Lammens, Martin and Reunert, Janine and Witten, Anika and Schrapers, Esther and Matthijs, Gert and Jaeken, Jaak and Rymen, Daisy and Stojkovic, Tanya and Laforêt, Pascal and Petit, François and Aumaître, Olivier and Czarnowska, Elzbieta and Piraud, Monique and Podskarbi, Teodor and Stanley, Charles A and Matalon, Reuben and Burda, Patricie and Seyyedi, Soraya and Debus, Volker and Socha, Piotr and Sykut-Cegielska, Jolanta and van Spronsen, Francjan and de Meirleir, Linda and Vajro, Pietro and DeClue, Terry and Ficicioglu, Can and Wada, Yoshinao and Wevers, Ron A and Vanderschaeghe, Dieter and Callewaert, Nico and Fingerhut, Ralph and van Schaftingen, Emile and Freeze, Hudson H and Morava, Eva and Lefeber, Dirk J and Marquardt, Thorsten
The New England journal of medicine, 02/2014, Volume 370, Issue 6, p. 533
Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive... 
Humans | Glucosephosphates - genetics | RNA, Messenger - analysis | Male | Glycogen Storage Disease - metabolism | Glycosylation | Genes, Recessive | Galactose - therapeutic use | Glycogen Storage Disease - diet therapy | Glycoproteins - biosynthesis | Phenotype | Glucosephosphates - metabolism | Glycogen Storage Disease - genetics | Glucose - metabolism | Mutation | Phosphoglucomutase - genetics | Phosphoglucomutase - metabolism
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3. Full Text Repetition blindness in schizophrenic patients
by Kammer, Thomas and Saleh, Fabian and Oepen, Godehard and Manschreck, Theo and Seyyedi, Soraya and Kanwisher, Nancy and Furmanski, Chris and Spitzer, M
European Archives of Psychiatry and Clinical Neurosciences, ISSN 0940-1334, 7/1998, Volume 248, Issue 3, pp. 136 - 140
Repetition blindness is the failure to report the detection of repeated items in rapid visually presented lists. It can be explained in terms of either a... 
Schizophrenia | Perception | Repetition blindness | Inhibition | Psychopathology | psychopathology | repetition blindness | PSYCHIATRY | inhibition | schizophrenia | CLINICAL NEUROLOGY | perception | Mental Processes | Neural Inhibition | Visual Perception - physiology | Humans | Middle Aged | Male | Reaction Time | Reference Values | Schizophrenic Psychology | Psychomotor Performance - physiology | Pilot Projects | Analysis of Variance | Schizophrenia - physiopathology | Adolescent | Adult | Female
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4. Full Text Functional magnetic resonance imaging of category-specific cortical activation: evidence for semantic maps
by Spitzer, Manfred and Kischka, Udo and Gückel, Friedemann and Bellemann, Matthias E and Kammer, Thomas and Seyyedi, Soraya and Weisbrod, Matthias and Schwartz, Andreas and Brix, Gunnar
Cognitive Brain Research, ISSN 0926-6410, 1998, Volume 6, Issue 4, pp. 309 - 319
Functional magnetic resonance imaging (fMRI) was used to examine the pattern of cortical activity during a picture naming task. Subjects (n = 12) had to... 
Semantic map | Psycholinguistics | Cortical activation | Functional magnetic resonance imaging (fMRI) | LANGUAGE | HUMAN BRAIN | psycholinguistics | FRONTAL-CORTEX | functional magnetic resonance imaging (fMRI) | NEURAL BASIS | BODY PARTS | WORD GENERATION | NEUROSCIENCES | NEUROIMAGING | RETRIEVAL | COMPUTER SCIENCE, ARTIFICIAL INTELLIGENCE | IMPAIRMENT | OBJECT RECOGNITION | semantic map | cortical activation | PLASTICITY | Arousal - physiology | Semantics | Humans | Statistics, Nonparametric | Magnetic Resonance Imaging - methods | Adult | Cerebral Cortex - physiology | Female | Male | Software | Brain Mapping - methods | Photic Stimulation
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5. Research report: Functional magnetic resonance imaging of category-specific cortical activation: evidence for semantic maps
by Spitzer, Manfred and Kischka, Udo and Guckel, Friedemann and Bellemann, Matthias E and Kammer, Thomas and Seyyedi, Soraya and Weisbrod, Matthias and Schwartz, Andreas and Brix, Gunnar
Cognitive Brain Research, ISSN 0926-6410, 04/1998, Volume 6, Issue 4, pp. 309 - 319
Functional magnetic resonance imaging (fMRI) was used to examine the pattern of cortical activity during a picture naming task. Subjects (n=12) had to covertly... 
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