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1.
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 772-789, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30659246
2.
U.S. News and World Report's rankings of the top 50 children's hospitals for diabetes and endocrinology reflect reputation more than objective measures.
J Pediatr Endocrinol Metab
; 24(9-10): 759-61, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22145470
3.
Diagnostic challenges and considerations of cyclical Cushing's syndrome in a 15-year-old female.
Pediatr Endocrinol Diabetes Metab
; 26(2): 104-107, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32462853
4.
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age.
Pediatr Diabetes
; 10(8): 550-3, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19515026
5.
A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.
J Hypertens
; 37(7): 1475-1481, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31145715
6.
Impact on bone of an estrogen receptor-alpha gene loss of function mutation.
J Clin Endocrinol Metab
; 93(8): 3088-96, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18505767
7.
Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis.
J Pediatr Endocrinol Metab
; 21(6): 587-90, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18717245
8.
Validation of HbA1c of 6.5% for diagnosing diabetes mellitus via the use of taxometric analysis.
Ann Epidemiol
; 22(1): 66-9, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22071074
9.
I-131 treatment of graves' disease in an unsuspected first trimester pregnancy; the potential for adverse effects on the fetus and a review of the current guidelines for pregnancy screening.
Int J Pediatr Endocrinol
; 2010: 858359, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-20300595
10.
A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.
J Clin Endocrinol Metab
; 95(5): 2281-5, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20335448
11.
RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.
J Pediatr Surg
; 43(1): 188-90, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18206480
12.
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.
J Pediatr
; 140(6): 781-3, 2002 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12072888
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