Works matching IS 21928312 AND DT 2021 AND VI 57 AND IP 1
Results: 15
Outcomes of patients with cobalamin C deficiency: A single center experience.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 102, doi. 10.1002/jmd2.12179
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Three successful pregnancies in a patient with glycogen storage disease type 0.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 38, doi. 10.1002/jmd2.12178
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Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 29, doi. 10.1002/jmd2.12177
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Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 23, doi. 10.1002/jmd2.12176
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Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 15, doi. 10.1002/jmd2.12175
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Quantitative whole‐body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 94, doi. 10.1002/jmd2.12174
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Normal reference ranges for urinary δ‐aminolevulinic acid and porphobilinogen levels.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 85, doi. 10.1002/jmd2.12173
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Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 76, doi. 10.1002/jmd2.12172
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Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 9, doi. 10.1002/jmd2.12171
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Impact of trimethylaminuria on daily psychosocial functioning.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 67, doi. 10.1002/jmd2.12170
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Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 3, doi. 10.1002/jmd2.12169
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Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 58, doi. 10.1002/jmd2.12168
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Genetic characterization of the Albanian Gaucher disease patient population.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 52, doi. 10.1002/jmd2.12167
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Long‐term follow‐up with filter paper samples in patients with propionic acidemia.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 44, doi. 10.1002/jmd2.12166
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- Article
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 1, doi. 10.1002/jmd2.12138
- Publication type:
- Article