Found: 17
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Characterization of the severe phenotype of pyruvate kinase deficiency.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 10, p. E281, doi. 10.1002/ajh.25926
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- Publication type:
- Article
Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 5, p. 472, doi. 10.1002/ajh.25753
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- Publication type:
- Article
Erythrocyte pyruvate kinase deficiency: 2015 status report.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 9, p. 825, doi. 10.1002/ajh.24088
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- Publication type:
- Article
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: Longitudinal risk and disease management.
- Published in:
- American Journal of Hematology, 2011, v. 86, n. 10, p. 827, doi. 10.1002/ajh.22118
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- Publication type:
- Article
Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
- Published in:
- 2006
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- Publication type:
- journal article
One Community's Effort to Control Genetic Disease.
- Published in:
- American Journal of Public Health, 2012, v. 102, n. 7, p. 1300, doi. 10.2105/AJPH.2011.300569
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- Publication type:
- Article
Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases.
- Published in:
- 2011
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- Publication type:
- Journal Article
Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases.
- Published in:
- Cardiology in the Young, 2011, v. 21, n. 2, p. 145, doi. 10.1017/S1047951110001587
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- Publication type:
- Article
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.
- Published in:
- British Journal of Haematology, 2021, v. 192, n. 6, p. 1092, doi. 10.1111/bjh.16724
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- Publication type:
- Article
Red Blood Cells from Individuals with Lesch–Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.
- Published in:
- Antioxidants, 2023, v. 12, n. 9, p. 1699, doi. 10.3390/antiox12091699
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- Publication type:
- Article
Pyruvate kinase deficiency in children.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 9, p. 1, doi. 10.1002/pbc.29148
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- Publication type:
- Article
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
- Published in:
- Nature Genetics, 2003, v. 34, n. 1, p. 91, doi. 10.1038/ng1147
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- Publication type:
- Article
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
- Published in:
- Nature Genetics, 2002, v. 32, n. 1, p. 175, doi. 10.1038/ng948
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- Publication type:
- Article
1041: CARDIOMYOPATHY IN PATIENTS WITH THE AMISH AND MENNONITE VARIANT OF PROPIONIC ACIDAEMIA.
- Published in:
- Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 207
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- Publication type:
- Article
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1107, doi. 10.1093/brain/awu022
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- Publication type:
- Article
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1639, doi. 10.1002/humu.22237
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- Publication type:
- Article
Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 4, p. 1809, doi. 10.1172/JCI67217
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- Publication type:
- Article