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1.
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
Acta Paediatr
; 105(12): 1451-1460, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27461099
2.
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Am J Hum Genet
; 89(4): 507-15, 2011 Oct 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-21963049
3.
Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Metabolites
; 13(7)2023 Jun 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37512487
4.
Decreased GH dose after the catch-up growth period maintains metabolic outcome in short prepubertal children with and without classic GH deficiency.
Clin Endocrinol (Oxf)
; 77(3): 407-15, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22417085
5.
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ß-oxidation.
Clin Transl Sci
; 15(1): 182-194, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34437764
6.
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
JIMD Rep
; 63(2): 181-190, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-35281659
7.
Growth hormone (GH) dosing during catch-up growth guided by individual responsiveness decreases growth response variability in prepubertal children with GH deficiency or idiopathic short stature.
J Clin Endocrinol Metab
; 94(2): 483-90, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-19001519
8.
GH Dose Reduction Maintains Normal Prepubertal Height Velocity After Initial Catch-Up Growth in Short Children.
J Clin Endocrinol Metab
; 104(3): 835-844, 2019 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30339244
9.
Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate.
Diabetes
; 68(4): 709-723, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30755400
10.
Incidence of Idiopathic Intracranial Hypertension in Individuals With Gonadotropin-Releasing Hormone Analogue Treatment for Gender Dysphoria in Sweden.
JAMA Pediatr
; 177(7): 726-727, 2023 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37126330
11.
High DPP-4 Concentrations in Adolescents Are Associated With Low Intact GLP-1.
J Clin Endocrinol Metab
; 103(8): 2958-2966, 2018 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29850829
12.
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
Acta Ophthalmol
; 86(3): 329-37, 2008 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-18162058
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