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1.
Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Endocr J
; 67(12): 1227-1232, 2020 Dec 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-32779619
2.
Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Mol Genet Metab
; 125(1-2): 174-180, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30049651
3.
Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.
Endocr J
; 63(11): 983-990, 2016 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-27545660
4.
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy.
Am J Med Genet A
; 167A(10): 2425-9, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26096762
5.
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Patient Prefer Adherence
; 17: 1885-1894, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37545653
6.
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.
Clin Pediatr Endocrinol
; 30(4): 155-161, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34629737
7.
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the ß-subunit of the insulin receptor (INSR) gene.
J Diabetes
; 11(1): 46-54, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29877041
8.
Cause of acute encephalitis/encephalopathy in Japanese children diagnosed by a rapid and comprehensive virological detection system and differences in their clinical presentations.
Brain Dev
; 40(2): 107-115, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28801087
9.
Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report.
Clin Pediatr Endocrinol
; 29(2): 85-87, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32313378
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