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1.
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
J Inherit Metab Dis
; 43(3): 540-548, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31816104
2.
The Arginine Deiminase Operon Is Responsible for a Fitness Trade-Off in Extended-Spectrum-ß-Lactamase-Producing Strains of Escherichia coli.
Antimicrob Agents Chemother
; 63(8)2019 08.
Article
in English
| MEDLINE | ID: mdl-31138573
3.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Article
in English
| MEDLINE | ID: mdl-27259049
4.
Circulating acylcarnitine profile in human heart failure: a surrogate of fatty acid metabolic dysregulation in mitochondria and beyond.
Am J Physiol Heart Circ Physiol
; 313(4): H768-H781, 2017 Oct 01.
Article
in English
| MEDLINE | ID: mdl-28710072
5.
Interactions between genotype and environment drive the metabolic phenotype within Escherichia coli isolates.
Environ Microbiol
; 18(1): 100-17, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-25808978
6.
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.
J Clin Rheumatol
; 26(5): e125-e127, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-30801335
7.
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
N Engl J Med
; 374(8): 795-7, 2016 Feb 25.
Article
in English
| MEDLINE | ID: mdl-26933868
8.
Methylation metabolites in amniotic fluid depend on gestational age.
Prenat Diagn
; 33(9): 848-55, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23613283
9.
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Mol Genet Metab
; 107(1-2): 66-71, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22854512
10.
Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.
Muscle Nerve
; 43(3): 444-6, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21321959
11.
Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
Eur J Pediatr
; 169(12): 1561-3, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20661589
12.
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Sci Rep
; 9(1): 14098, 2019 Oct 01.
Article
in English
| MEDLINE | ID: mdl-31575911
13.
Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening.
Clin Chem Lab Med
; 50(12): 2231-3, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23093084
14.
Characterization of insulin secretion and resistance in type 2 diabetes of adolescents.
J Clin Endocrinol Metab
; 91(2): 401-4, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16291705
15.
Oral glutamine and amino acid supplementation inhibit whole-body protein degradation in children with Duchenne muscular dystrophy.
Am J Clin Nutr
; 83(4): 823-8, 2006 Apr.
Article
in English
| MEDLINE | ID: mdl-16600934
16.
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
PLoS One
; 10(7): e0132972, 2015.
Article
in English
| MEDLINE | ID: mdl-26207760
17.
Dopamine and serotonin levels in cerebrospinal fluid during episodes of Kleine-Levin syndrome.
Sleep Med
; 36: 184-185, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28629702
18.
Measurement of free and total sialic acid by isotopic dilution liquid chromatography tandem mass spectrometry method.
J Chromatogr B Analyt Technol Biomed Life Sci
; 879(31): 3694-9, 2011 Dec 01.
Article
in English
| MEDLINE | ID: mdl-22035979
19.
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.
Mitochondrion
; 11(3): 533-6, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21329767
20.
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.
Neuromuscul Disord
; 20(1): 44-8, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-19945282