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Martina Huemer

Boston Children's Hospital
University of Zurich

69

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2336

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Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.

2021 Orphanet Journal of Rare Diseases
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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision.

2021 Journal of Inherited Metabolic Disease
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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.

2020
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Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

2020 Journal of Inherited Metabolic Disease
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Cystathionine β-synthase deficiency in the E-HOD registry-Part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

2020 Journal of Inherited Metabolic Disease
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Health‐related quality of life in paediatric patients with intoxication type inborn errors of metabolism: analysis of an international dataset

2020 Journal of Inherited Metabolic Disease
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Early onset facioscapulohumeral muscular dystrophy – long-term follow-up of a patient with total facial diplegia

2019 Neuromuscular Disorders
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Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision

2019 Journal of Inherited Metabolic Disease
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Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

2019 Orphanet Journal of Rare Diseases
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The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

2019 Journal of Inherited Metabolic Disease
- Martina Huemer
- Matthias R. Baumgartner
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Citations (17)