Found: 9
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Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1205, doi. 10.3390/genes12081205
- By:
- Publication type:
- Article
Severe allergic contact dermatitis to two different continuous glucose monitoring devices in a patient with glycogen storage disease type 9b.
- Published in:
- Pediatric Dermatology, 2021, v. 38, n. 5, p. 1302, doi. 10.1111/pde.14767
- By:
- Publication type:
- Article
Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 6, p. 1091, doi. 10.1002/pbc.25364
- By:
- Publication type:
- Article
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 187, doi. 10.1007/s10545-018-0138-7
- By:
- Publication type:
- Article
Severe loss of appetite and refusal to eat as severe side effect of glycerol phenylbutyrate.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 521, doi. 10.1002/jmd2.12286
- By:
- Publication type:
- Article
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency.
- Published in:
- 2022
- By:
- Publication type:
- Case Study