Found: 11
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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03373-w
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- Publication type:
- Article
The Wide Phenotypic Spectrum of L‐2 Hydroxyglutaric Aciduria in Adults.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 1004, doi. 10.1002/mdc3.13092
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- Article
Mepolizumab as an effective treatment in a case of hypophysitis in eosinophilic granulomatosis with polyangiitis.
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- Therapeutic Advances in Neurological Disorders, 2023, p. 1, doi. 10.1177/17562864231182519
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- Article
Mepolizumab as an effective treatment in a case of hypophysitis in eosinophilic granulomatosis with polyangiitis.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2023, v. 16, p. 1, doi. 10.1177/17562864231182519
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- Article
Klassische Galaktosämie.
- Published in:
- MMW: Fortschritte der Medizin, 2024, v. 166, p. 19, doi. 10.1007/s15006-024-3585-0
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- Article
A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03174-1
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- Article
Cardiac Magnetic Resonance Reveals Incipient Cardiomyopathy Traits in Adult Patients With Phenylketonuria.
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- 2021
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- Publication type:
- journal article
Personality Traits and Physical Complaints in Patients With Acromegaly: A Cross Sectional Multi-Center Study With Analysis of Influencing Factors.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00391
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- Article
Obesity and pituitary gland volume – a correlation study using three-dimensional magnetic resonance imaging.
- Published in:
- Neuroradiology Journal, 2020, v. 33, n. 5, p. 400, doi. 10.1177/1971400920937843
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- Article
Eine Ursache, viele Symptome: Die klassische Homocystinurie.
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- MMW: Fortschritte der Medizin, 2023, v. 165, n. 1, p. 12, doi. 10.1007/s15006-023-2328-y
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- Publication type:
- Article
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1408, doi. 10.3390/genes14071408
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- Article