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Refinado por: Base de dados/Biblioteca: PMC (PubMed Central) remover tipo de recurso: Book Chapters remover
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1
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
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Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

Ardissone, Anna ; Granata, Tiziana ; Legati, Andrea ; Diodato, Daria ; Melchionda, Laura ; Lamantea, Eleonora ; Garavaglia, Barbara ; Ghezzi, Daniele ; Moroni, Isabella

JIMD Reports, Volume 22, 2015, Vol.22, p.115-120 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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2
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1
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Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

Angileri, Francesca ; Bergeron, Anne ; Morrow, Geneviève ; Lettre, Francine ; Gray, George ; Hutchin, Tim ; Ball, Sarah ; Tanguay, Robert M.

JIMD Reports, Volume 19, 2015, Vol.19, p.43-58 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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3
Bladder Dysfunction in Parkinson's Disease and Other Parkinsonism
Bladder Dysfunction in Parkinson's Disease and Other Parkinsonism
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Bladder Dysfunction in Parkinson's Disease and Other Parkinsonism

Stocchi, Fabrizio ; Torti, Margherita ; Palleschi, Giovanni ; Carbone, Antonio Lang, Anthony E ; Stocchi, Fabrizio ; Olanow, C. Warren

Parkinson's Disease, 2011, p.274-283

Oxford, UK: Blackwell Publishing Ltd

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4
Tetramolecular Quadruplex Stability and Assembly
Tetramolecular Quadruplex Stability and Assembly
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Tetramolecular Quadruplex Stability and Assembly

Rajendran, A. ; Endo, M. ; Hidaka, K. ; Lan Thao Tran, P. ; Mergny, J.-L. ; Sugiyama, H.

Nucleic acids research, 2013, Vol.41 (18), p.243-273 [Periódico revisado por pares]

Oxford University Press

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5
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme
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Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme

Kemper, E. A. ; Boelen, A. ; Bosch, A. M. ; van Veen-Sijne, M. ; van Rijswijk, C. N. ; Bouva, M. J. ; Fingerhut, R. ; Schielen, P. C. J. I.

JIMD Reports, Volume 32, 2017, Vol.32, p.1-6 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
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Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

de Sain-van der Velden, Monique G. M. ; Kuper, Willemijn F. E. ; Kuijper, Marie-Anne ; van Kats, Lenneke A. T. ; Prinsen, Hubertus C. M. T. ; Balemans, Astrid C. J. ; Visser, Gepke ; van Gassen, Koen L. I. ; van Hasselt, Peter M.

JIMD Reports, Volume 42, 2018, Vol.42, p.99-103 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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7
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables
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Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables

Araújo, Ana Claudia Marquim F. ; Araújo, Wilma M. C. ; Marquez, Ursula M. Lanfer ; Akutsu, Rita ; Nakano, Eduardo Y.

JIMD Reports, Volume 34, 2017, Vol.34, p.87-96 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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8
Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent
Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent
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Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent

Lovell, Kathryn L. ; Zhu, Mei ; Drummond, Meghan C. ; Switzer, Robert C. ; Friderici, Karen H.

JIMD Reports - Case and Research Reports, Volume 13, 2014, Vol.13, p.73-81 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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9
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation
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Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation

Fraidakis, M. J. ; Liadinioti, C. ; Stefanis, L. ; Dinopoulos, A. ; Pons, R. ; Papathanassiou, M. ; Garcia-Villoria, J. ; Ribes, A.

JIMD Reports, Volume 18, 2015, Vol.18, p.85-92 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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10
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India
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Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India

Bijarnia-Mahay, Sunita ; Movva, Sireesha ; Gupta, Neerja ; Sharma, Deepak ; Puri, Ratna D. ; Kotecha, Udhaya ; Saxena, Renu ; Kabra, Madhulika ; Mohan, Neelam ; Verma, Ishwar C

JIMD Reports, Volume 19, 2015, Vol.19, p.85-93 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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