Suchergebnisse - "Matthias Gautschi"

1

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

von: Tatiana Bremova-Ertl

2023, in: Cells

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2

Integration of adult patients with phenylketonuria into professional life: Long-term follow-up of 27 patients in a single centre in Switzerland

von: Sabrina Pers

2014, in: Swiss Medical Weekly

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3

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia

von: Mirjam Korner

2019, in: Orphanet Journal of Rare Diseases

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4

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

von: Alexander Laemmle

2016, in: PLoS ONE

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5

Triheptanoin – Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency

von: Alexander Laemmle

2021, in: Molecular Genetics and Metabolism Reports

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6

Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

von: Eileen P. Treacy

2021, in: JIMD Reports

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7

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

von: Florin Bösch

2022, in: Molecular Genetics and Metabolism Reports

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8

Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

von: Eugen Mengel

2021, in: Orphanet Journal of Rare Diseases

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9

Galactose epimerase deficiency: lessons from the GalNet registry

von: Britt Derks

2022, in: Orphanet Journal of Rare Diseases

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10

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

von: Bianca Panis

2024, in: Frontiers in Genetics

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