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Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S112-S112

2016

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118P Characterization of patients with Type 1 Spinal Muscular Atrophy in advanced disease state treated with Nusinersen

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.16

2024

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REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S120

2018

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REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS: P.294Muscle biopsy in the study of muscle disease in pediatric population

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S120-S120

2018

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P.77 - Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S112-S112

2016

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Manifestation of muscular dystrophy by Anoctamin-5 mutation in infancy

Neuropediatrics, 2012, Vol.43 (2)

2012

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Early Lethal Neurodegeneration with Myasthenic and Myopathic Features: A New Genetic Syndrome Due to Previously Undescribed ALG14 Mutations

Neuropediatrics, 2016, Vol.47 (S 01)

2016

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Ownership of computers and abilities for their use in a sample of Chilean medical students

Medical teacher, 2000, Vol.22 (2), p.197-199

Herskovic, A. Vasquez, J. Herskovic, V. Herskovic, A. Roizen, M. T. Urrutia, C. Miranda, M. Beytia, P.

2000

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Meditative Education, a Methodology for Self-care of University Scholars

Revista Cubana de estomatologia, 2023-06, Vol.60 (2), p.e4651-e4651

2023

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Analysis of self-employed hours when implementing the credit system in dentistry

Revista Cubana de estomatologia, 2023-08, Vol.60 (3), p.e4655-e4655

2023

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Contribution to the surgical technic of correcting genital prolapse

Revista chilena de obstetricia y ginecología, 1966-11, Vol.31 (6), p.345

Lemus Beytia, M

1966

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Conical Tank Level Control with Fractional PID

Revista IEEE América Latina, 2016-06, Vol.14 (6), p.2598-2604

2016

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Giant fibrothecoma--an interesting case

Clinical and experimental obstetrics & gynecology, 2007, Vol.34 (1), p.57-59

2007

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Pig liver phosphomevalonate kinase. 1. Purification and properties

Biochemistry (Easton), 1980-05, Vol.19 (11), p.2300-2304

1980

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Pig liver phosphomevalonate kinase. 2. Participation of cysteinyl and lysyl groups in catalysis

Biochemistry (Easton), 1980-05, Vol.19 (11), p.2305-2310

1980

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The effects of fasting, refeeding, and time of day on the levels of enzymes effecting the conversion of -hydroxy- -methylglutaryl-coenzyme A to squalene

The Journal of biological chemistry, 1972-05, Vol.247 (10), p.3014-3022

1972

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The effect of starvation and re-feeding on the rates of synthesis and degradation of enzyms effecting intermediate reactions in the synthesis of cholesterol and fatty acids in rat liver

Biochemical journal, 1972-06, Vol.128 (1), p.16P-17P

1972

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Hog liver mevalonate kinase: Inactivation by pyridoxal-5′-phosphate and evidence of dead-end inhibition by one of the substrates

International journal of biochemistry, 1979, Vol.10 (11), p.931-935

1979

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Diagnóstico clínico e histológico de la enfermedad celiaca en Hospital Luis Calvo Mackenna

Revista Chilena de Estudiantes de Medicina, 2003-11, Vol.3 (1), p.6-9

2003

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Pig liver phosphomevalone kinase. 1. Purification and properties

Biochemistry (Easton), 1980-05, Vol.19 (11), p.2300-2304

1980

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Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

118P Characterization of patients with Type 1 Spinal Muscular Atrophy in advanced disease state treated with Nusinersen

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS: P.294Muscle biopsy in the study of muscle disease in pediatric population

P.77 - Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

Manifestation of muscular dystrophy by Anoctamin-5 mutation in infancy

Early Lethal Neurodegeneration with Myasthenic and Myopathic Features: A New Genetic Syndrome Due to Previously Undescribed ALG14 Mutations

Ownership of computers and abilities for their use in a sample of Chilean medical students

Meditative Education, a Methodology for Self-care of University Scholars

Analysis of self-employed hours when implementing the credit system in dentistry

Contribution to the surgical technic of correcting genital prolapse

Conical Tank Level Control with Fractional PID

Giant fibrothecoma--an interesting case

Pig liver phosphomevalonate kinase. 1. Purification and properties

Pig liver phosphomevalonate kinase. 2. Participation of cysteinyl and lysyl groups in catalysis

The effects of fasting, refeeding, and time of day on the levels of enzymes effecting the conversion of -hydroxy- -methylglutaryl-coenzyme A to squalene

The effect of starvation and re-feeding on the rates of synthesis and degradation of enzyms effecting intermediate reactions in the synthesis of cholesterol and fatty acids in rat liver

Hog liver mevalonate kinase: Inactivation by pyridoxal-5′-phosphate and evidence of dead-end inhibition by one of the substrates

Diagnóstico clínico e histológico de la enfermedad celiaca en Hospital Luis Calvo Mackenna

Pig liver phosphomevalone kinase. 1. Purification and properties

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