Detalhe da pesquisa
1.
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Am J Med Genet A
; 194(6): e63533, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234231
2.
Updates in the management of pediatric dyslipidemia.
Curr Opin Lipidol
; 34(4): 156-161, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36942877
3.
Lipodystrophy for the Diabetologist-What to Look For.
Curr Diab Rep
; 22(9): 461-470, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821558
4.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414627
5.
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.
J Med Genet
; 57(6): 422-426, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857427
6.
An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood.
Am J Med Genet A
; 182(10): 2399-2402, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783369
7.
Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
Am J Med Genet A
; 173(9): 2517-2521, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686329
8.
Case 3: Hypoglycemia in an Infant with Cholestasis.
Pediatr Rev
; 40(9): 488-490, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31477592
9.
Elevated alpha-fetoprotein levels in Van Wyk-Grumbach syndrome: a case report and review of literature.
J Pediatr Endocrinol Metab
; 25(7-8): 761-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23155707
10.
Evaluation and Management of Lipids and Lipoproteins in Children and Adolescents.
Endocrinol Metab Clin North Am
; 51(3): 573-588, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35963629
11.
Case Studies in Pediatric Lipid Disorders and Their Management.
J Clin Endocrinol Metab
; 106(12): 3605-3620, 2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34363474
12.
Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation.
J Pediatr Endocrinol Metab
; 33(12): 1609-1612, 2020 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32924381
13.
Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations.
J Clin Endocrinol Metab
; 104(3): 957-960, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476128
14.
Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease.
Pathology
; 51(2): 202-212, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595509
15.
Diazoxide for the Treatment of Hypoglycemia Resulting From Dumping Syndrome in a Child.
J Endocr Soc
; 3(7): 1357-1360, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286099
16.
Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants.
J Clin Endocrinol Metab
; 104(4): 1099-1108, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30418556
17.
Orlistat Therapy for Children With Type 1 Hyperlipoproteinemia: A Randomized Clinical Trial.
J Clin Endocrinol Metab
; 103(6): 2403-2407, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659879
18.
The prevalence and etiology of extreme hypertriglyceridemia in children: Data from a tertiary children's hospital.
J Clin Lipidol
; 12(2): 305-310, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454679
19.
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
J Clin Endocrinol Metab
; 103(3): 1005-1014, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29267953
20.
Caveolar dysfunction and lipodystrophies.
Eur J Endocrinol
; 186(3): C1-C4, 2022 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34935636