Suchergebnisse - "Julia Palacios, Natalia"

1

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

von: Julià-Palacios, Natalia

May 2024, in: Journal of inherited metabolic disease

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2

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

von: Tokatly Latzer, Itay

2023, in: Human genetics

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3

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

von: Tokatly Latzer, Itay

14 November 2023, in: Human genetics

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4

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

von: Tokatly Latzer, Itay

2024, in: Journal of neurodevelopmental disorders

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5

Integrative approach to predict severity in nonketotic hyperglycinemia

von: Kuseyri Hübschmann, Oya

August 2022, in: Annals of neurology

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6

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

von: García-Cazorla, Àngels

2020, in: Acta neuropathologica

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7

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

von: Keller, Mareike

November 2021, in: Journal of inherited metabolic disease

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8

Corrigendum to: Prevalence of

von: Himmelreich, Nastassja

2023, in: Molecular genetics and metabolism

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9

Prevalence of

von: Himmelreich, Nastassja

2023, in: Molecular genetics and metabolism

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10

Corrigendum to : Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

von: Himmelreich, Nastassja

7 July 2023, in: Molecular genetics and metabolism

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11

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

von: Himmelreich, Nastassja

July 2023, in: Molecular genetics and metabolism

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12

Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

von: Armangue, Thaís

2020, in: Rejection and modeling of arsenate by nanofiltration: Contributions of convection, diffusion and electromigration to arsenic transport

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13

Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study

von: Murai, Hiroyuki

2019transfer abstract, in: A new global analytical potential energy surface of NaH

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