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Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 35370 - 35370
Journal Article
Journal Article
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 190 - 190
Background: Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three... 
MEDICINE, RESEARCH & EXPERIMENTAL | PRPS1 | VARIANTS | Retinitis pigmentosa | SENSORINEURAL DEAFNESS | Non-random X-chromosome inactivation | PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE | Neuropathy | OF-FUNCTION MUTATIONS | INACTIVATION | NUCLEOTIDE | DISEASE | GENETICS & HEREDITY | PERIPHERAL NEUROPATHY | SEQUENCING DATA | Phosphoribosyl pyrophosphate synthetase deficiency | ARTS SYNDROME | Peripheral Nervous System Diseases - diagnosis | Amino Acid Sequence | Hearing Loss - diagnosis | Protein Structure, Secondary | Humans | Molecular Sequence Data | Retinitis Pigmentosa - genetics | Male | Hearing Loss - complications | Mutation, Missense - genetics | Syndrome | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Retinitis Pigmentosa - diagnosis | Hearing Loss - genetics | Phenotype | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Retinitis Pigmentosa - complications | Pedigree | Ribose-Phosphate Pyrophosphokinase - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Ribose-Phosphate Pyrophosphokinase - deficiency | Female | Peripheral Nervous System Diseases - complications | Peripheral Nervous System Diseases - genetics | Usage | Gene mutations | Polyneuropathies | Exome sequencing | Genetic aspects | Diagnosis | Research | Identification and classification | Health aspects | Risk factors | Studies | Enzymes | Genotype & phenotype | Disease | Ataxia | Photoreceptors | Genomes | Mutation | Genetic testing | Hearing impairment | Deoxyribonucleic acid--DNA | Crystal structure | Index Medicus
Journal Article
Anales de Pediatría, ISSN 1695-4033, 2013, Volume 82, Issue 3, pp. 139 - 143
Resumen Introducción objetivos La enfermedad meningocócica invasiva (EMI) constituye un grave problema de salud pública. A pesar de que el cultivo es la... 
Pediatrics | Polymerase chain reaction | Enfermedad meningocócica | Reacción en cadena de la polimerasa | Infección por meningococo | Meningitis por meningococo | Meningococcal infections | Meningococcal meningitis | Meningococcal disease
Journal Article
ANALES DE PEDIATRIA, ISSN 1695-4033, 03/2015, Volume 82, Issue 3, pp. 139 - 143
Introduction and objectives and aims: Invasive meningococcal disease (IMD) remains a serious public health problem. Although culture is the gold standard,... 
Polymerase chain reaction | PEDIATRICS | BACTERIAL-MENINGITIS | Meningococcal infections | Meningococcal meningitis | Meningococcal disease | Meningococcal Infections - epidemiology | Humans | Meningococcal Infections - diagnosis | Polymerase Chain Reaction | Child, Preschool | Female | Infant | Male | Retrospective Studies | Index Medicus
Journal Article
Anales de Pediatría (English Edition), ISSN 2341-2879, 03/2015, Volume 82, Issue 3, pp. 139 - 143
Invasive meningococcal disease (IMD) remains a serious public health problem. Although culture is the gold standard, previous antibiotic therapy reduces its... 
Polymerase chain reaction | Enfermedad meningocócica | Reacción en cadena de la polimerasa | Infección por meningococo | Meningitis por meningococo | Meningococcal infections | Meningococcal meningitis | Meningococcal disease
Journal Article
ANALES DEL SISTEMA SANITARIO DE NAVARRA, ISSN 1137-6627, 05/2018, Volume 41, Issue 2, pp. 201 - 204
Hernia pathology accounts for a large percentage of urgent surgical interventions. Obturator hernia is rare, usually presenting as a picture of acute... 
Surgery mesh | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | MANAGEMENT | Clavien-Dindo | ALGORITHM | Obturator hernia | Intestinal obstruction | PREOPERATIVE DIAGNOSIS | Hernia, Obturator - surgery | Prospective Studies | Tertiary Care Centers | Humans | Aged, 80 and over | Female | Male | Hernia, Obturator - diagnosis | Index Medicus
Journal Article
Plant Biotechnology Journal, ISSN 1467-7644, 06/2008, Volume 6, Issue 5, pp. 427 - 441
Journal Article
Journal Article