Specola, N: search on Z-Library

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1

Alternative Therapies for PKU

Spécola, Norma, Chiesa, Ana

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2017

Language:

english

File:

PDF, 154 KB

english, 2017

2

Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings

L. De Meirleir, N. Specola, S. Seneca1, W. Lissens

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 87 KB

english, 1998

3

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá, N. Specola, P. Rodríguez-Pombo, Moacir Wajner, Raquel Dodelson de Kremer, Verónica Cornejo, Lourdes R. Desviat,

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 147 KB

english, 2010

4

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)

Amartino, H., Ceci, R., Masllorens, F., Gal, A., Arberas, C., Bay, L., Ilari, R., Dipierri, J., Specola, N., Cabrera, A., Rozenfeld, P.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2014

Language:

english

File:

PDF, 173 KB

english, 2014

5

Aromatic l-aminoacid decarboxylase deficiency: Unusual neonatal presentation and additional findings in organic acid analysis

Jose E. Abdenur, Nico Abeling, Norma Specola, Lia Jorge, Andrea B. Schenone, Arno C. van Cruchten, Nestor A. Chamoles

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

6

The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states

J. P. Bonnefont, N. B. Specola, A. Vassault, A. Lombes, H. Ogier, J. B. C. de Klerk, A. Munnich, M. Coude, M. Paturneau-Jouas, J. -M. Saudubray

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 577 KB

english, 1990

7

Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey

J. M. Saudubray, H. Ogier, J. P. Bonnefont, A. Munnich, A. Lombes, F. Hervé, G. Mitchel, B. Poll Thé, N. Specola, P. Parvy, J. Bardet, D. Rabier, M. Coudé, C. Charpentier, J. Frézal

Journal:

Journal of Inherited Metabolic Disease

Year:

1989

Language:

english

File:

PDF, 1.31 MB

english, 1989

8

Secondary bilateral synchrony in unilateral pial angiomatosis: successful surgical treatment.

Chevrie, J J, Specola, N, Aicardi, J

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1988

Language:

english

File:

PDF, 1018 KB

english, 1988

9

Involuntary movements in childhood

Herrero, María M., Spécola, Norma B., Boccaleri, Carlos, Gershanik, Oscar S.

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 124 KB

english, 1992

10

Hyperargininemia: Experience of treatment from the neonatal period

Spécola, Norma B., Maziriz, Miriam S., Chamoles, Néstor A., Campoy, Cristina A.

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 129 KB

english, 1992

11

Hyperketotic States Due to Inherited Defects of Ketolysis

Saudbray, J. M. (a), Specola, N. (a), Middleton, B. (b), Lombes, A. (a), Bonnefont, J. P. (a), Jakobs, C. (c), Vassault, A. (a), Charpentier, C. (a), Day, R. (b)

Journal:

Year:

1987

File:

PDF, 1.59 MB

1987

12

aciduria in leukodystrophy

Spécola, Norma B., Carzoglio, Miguel, Schenone, Andrea, Chamoles, Néstor A.

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 258 KB

english, 1992

13

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Cohen, Leila, Manín, Analisa, Medina, Nancy, Rodríguez‐Quiroga, Sergio, González‐Morón, Dolores, Rosales, Julieta, Amartino, Hernan, Specola, Norma, Córdoba, Marta, Kauffman, Marcelo, Vega, Patricia

Journal:

Annals of Human Genetics

Year:

2019

Language:

english

File:

PDF, 975 KB

english, 2019

14

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls

Asteggiano, Carla Gabriela, Papazoglu, Magali, Bistué Millón, María Beatriz, Peralta, María Fernanda, Azar, Nydia Beatriz, Spécola, Norma Spécola, Guelbert, Norberto, Suldrup, Niels Suldrup, Pereyra,

Journal:

Pediatric Research

Year:

2018

Language:

english

File:

PDF, 1.83 MB

english, 2018

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