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1
Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotype
Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotype
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Autosomal dominant frontometaphyseal dysplasia Delineation of the clinical phenotype

Emma M. Wade Zandra A Jenkins; Philip B Daniel; Tim Morgan; Marie C Addor; Lesley C Adés; Debora Bertola; Axel Bohring; Erin Carter; Tae-Joon Cho; Christa M. de Geus; Hans-Christoph Duba; Elaine Fletcher; Kinga Hadzsiev; Raoul C. M Hennekam; Chong A Kim; Eva Deborah Krakow; Eva Morava; Teresa Neuhann; David Sillence; Andrea Superti-Furga; Hermine E Veenstra-Knol; Dagmar Wieczorek; Louise C Wilson; David M Markie; Stephen P Robertson

American Journal of Medical Genetics - Part A Hoboken v. 173A, n. 7, p. p. 1739–1746, July 2017

Hoboken 2017

Localização: FM - Fac. Medicina    (BCSEP 392 2017 )(Acessar)

2
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
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Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Morava, Eva

Molecular genetics and metabolism, 2014-08, Vol.112 (4), p.275-279 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Congenital disorders of glycosylation: new defects and still counting
Congenital disorders of glycosylation: new defects and still counting
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Congenital disorders of glycosylation: new defects and still counting

Scott, Kyle ; Gadomski, Therese ; Kozicz, Tamas ; Morava, Eva

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.609-617 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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4
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants
A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants
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A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

Geiculescu, Irina ; Dranove, Jason ; Cosper, Graham ; Edmondson, Andrew C. ; Morava‐Kozicz, Eva ; Carter, Lauren B.

American journal of medical genetics. Part A, 2022-08, Vol.188 (8), p.2438-2442 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
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Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)

Witters, Peter ; Cassiman, David ; Morava, Eva

Nutrients, 2017-11, Vol.9 (11), p.1222 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Congenital disorders of glycosylation: narration of a story through its patents
Congenital disorders of glycosylation: narration of a story through its patents
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Congenital disorders of glycosylation: narration of a story through its patents

Monticelli, Maria ; D'Onofrio, Tania ; Jaeken, Jaak ; Morava, Eva ; Andreotti, Giuseppina ; Cubellis, Maria Vittoria

Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.247-247, Article 247 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Molecules, metabolism and genetics
Molecules, metabolism and genetics
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Molecules, metabolism and genetics

Morava, Eva

Molecular genetics and metabolism, 2024-01, Vol.141 (1), p.108126-108126, Article 108126 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Increased Clinical Sensitivity and Specificity of Plasma Protein N -Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry
Increased Clinical Sensitivity and Specificity of Plasma Protein N -Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry
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Increased Clinical Sensitivity and Specificity of Plasma Protein N -Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry

Chen, Jie ; Li, Xueli ; Edmondson, Andrew ; Meyers, Gail Ditewig ; Izumi, Kosuke ; Ackermann, Amanda M ; Morava, Eva ; Ficicioglu, Can ; Bennett, Michael J ; He, Miao

Clinical chemistry (Baltimore, Md.), 2019-05, Vol.65 (5), p.653-663 [Periódico revisado por pares]

England: Oxford University Press

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9
CDG Therapies: From Bench to Bedside
CDG Therapies: From Bench to Bedside
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CDG Therapies: From Bench to Bedside

Brasil, Sandra ; Pascoal, Carlota ; Francisco, Rita ; Marques-da-Silva, Dorinda ; Andreotti, Giuseppina ; Videira, Paula A ; Morava, Eva ; Jaeken, Jaak ; Dos Reis Ferreira, Vanessa

International journal of molecular sciences, 2018-04, Vol.19 (5), p.1304 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation
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High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

van Scherpenzeel, Monique ; Steenbergen, Gerry ; Morava, Eva ; Wevers, Ron A ; Lefeber, Dirk J

Translational research : the journal of laboratory and clinical medicine, 2015-12, Vol.166 (6), p.639-649.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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