Detalhe da pesquisa
1.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
2.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab
; 138(3): 107525, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796138
3.
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
Mol Genet Metab
; 109(2): 215-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583224
4.
Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
Mol Genet Metab
; 102(2): 214-5, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21130013
5.
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
Mol Genet Metab
; 103(4): 362-6, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21605996
6.
An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.
Mol Genet Metab
; 104(1-2): 118-22, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21802969
7.
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.
Am J Med Genet A
; 152A(1): 169-74, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20014132
8.
Serum brain-derived neurotrophic factor concentrations in lean and overweight children and adolescents.
J Clin Endocrinol Metab
; 91(9): 3548-52, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16787984
9.
Gender-specific correlates of leptin with hypertension-related phenotypes in African Americans.
Am J Hypertens
; 15(11): 989-93, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12441220
10.
Menorrhagia in patients with type I glycogen storage disease.
Obstet Gynecol
; 122(6): 1246-54, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24201678
11.
Hyperinsulinism/Hyperammonemia Syndrome: a synopsis.
Mol Genet Metab
; 84(2): 101-3, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15773041