Found: 16
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The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome.
- Published in:
- Clinical & Experimental Immunology, 2024, v. 217, n. 3, p. 291, doi. 10.1093/cei/uxae048
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- Publication type:
- Article
Anesthesia management in living-donor liver transplantation in a patient with carbamoyl phosphate synthetase deficiency: a case report.
- Published in:
- JA Clinical Reports, 2022, v. 8, n. 1, p. 1, doi. 10.1186/s40981-022-00558-9
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- Publication type:
- Article
High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2820, doi. 10.3390/ijms25052820
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- Article
Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 4, p. 757, doi. 10.1530/EJE-11-0812
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- Article
Genotype–Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 9, p. 2358, doi. 10.1210/clinem/dgae098
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- Publication type:
- Article
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 1, p. 26, doi. 10.1297/cpe.2022-0063
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- Publication type:
- Article
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
Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Validation.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 12, p. 2195, doi. 10.3390/diagnostics11122195
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- Publication type:
- Article
Acute myositis associated with concurrent infection of rotavirus and norovirus in a 2-year-old girl.
- Published in:
- 2015
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- Publication type:
- Case Study
Molecular and cytogenetic analyses of a patient with Prader-Willi syndrome who also had the phenotype of Angelman syndrome.
- Published in:
- 2013
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- Publication type:
- Abstract
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15286
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- Publication type:
- Article
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 17, doi. 10.1002/jmd2.12061
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- Publication type:
- Article
Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
- Published in:
- 2024
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- Publication type:
- Case Study
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1175
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- Publication type:
- Article
Adenovirus serotype 31 infection in a newborn girl and review of the literature.
- Published in:
- Pediatrics International, 2011, v. 53, n. 3, p. 408, doi. 10.1111/j.1442-200X.2010.03260.x
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- Publication type:
- Article
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy.
- Published in:
- Clinical Pediatric Endocrinology, 2017, v. 26, n. 4, p. 251, doi. 10.1297/cpe.26.251
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- Publication type:
- Article