A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 201, doi. 10.1297/cpe.30.201
- By:
- Publication type:
- Article
Works matching IS 09185739 AND DT 2021 AND VI 30 AND IP 4
Results: 7
1
2
Extra-endocrine phenotypes at infancy in multiple endocrine neoplasia type 2B: A case series of six Japanese patients.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 195, doi. 10.1297/cpe.30.195
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- Publication type:
- Article
3
Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 187, doi. 10.1297/cpe.30.187
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- Publication type:
- Article
4
A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 179, doi. 10.1297/cpe.30.179
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- Publication type:
- Article
5
Bone age in prepubertal children with nonfamilial or familial idiopathic short stature and prepubertal short-stature children born small for gestational age: a longitudinal data analysis.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 171, doi. 10.1297/cpe.30.171
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- Publication type:
- Article
6
Acquired uniparental disomy of chromosome 7 in a patient with MIRAGE syndrome that veiled a pathogenic SAMD9 variant.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 163, doi. 10.1297/cpe.30.163
- By:
- Publication type:
- Article
7
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
- Published in:
- Clinical Pediatric Endocrinology, 2021, v. 30, n. 4, p. 155, doi. 10.1297/cpe.30.155
- By:
- Publication type:
- Article