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Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
- Published in:
- Movement Disorders, 2013, v. 28, n. 5, p. 685, doi. 10.1002/mds.25390
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- Publication type:
- Article
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
- Published in:
- 2006
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- Publication type:
- journal article
Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy.
- Published in:
- Movement Disorders, 2002, v. 17, n. 2, p. 354, doi. 10.1002/mds.10095
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- Publication type:
- Article
SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes.
- Published in:
- Diabetologia, 2017, v. 60, n. 7, p. 1304, doi. 10.1007/s00125-017-4261-z
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- Publication type:
- Article
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
- Published in:
- Human Genetics, 2000, v. 106, n. 5, p. 538, doi. 10.1007/s004390050022
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- Publication type:
- Article
Lactate infusion as therapeutical intervention: a scoping review.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 6, p. 2227, doi. 10.1007/s00431-022-04446-3
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- Publication type:
- Article
The <sup>1</sup>H-NMR-based metabolite profile of acute alcohol consumption: A metabolomics intervention study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0196850
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- Publication type:
- Article
DIFICULTĂŢI DE DIAGNOSTIC ÎN HEPATOPATIA CRONICĂ SEVERĂ CU DEBUT PRECOCE. PREZENTARE DE CAZ.
- Published in:
- Romanian Journal of Rheumatology / Revista Romana de Reumatologie, 2014, v. 23, n. 2, p. 217
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- Publication type:
- Article
DIAGNOSIS DIFFICULTIES IN SEVERE AND CHRONIC HEPATOPATHY WITH EARLY ONSET. CASE REPORT.
- Published in:
- Romanian Journal of Rheumatology / Revista Romana de Reumatologie, 2014, v. 23, n. 2, p. 164
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- Publication type:
- Article
A diagnostic biomarker profile for fibromyalgia syndrome based on an NMR metabolomics study of selected patients and controls.
- Published in:
- 2017
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- Publication type:
- journal article
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
- Published in:
- 2013
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- Publication type:
- journal article
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
- Published in:
- Heart Failure Reviews, 2013, v. 18, n. 2, p. 187, doi. 10.1007/s10741-012-9302-6
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- Publication type:
- Article
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.
- Published in:
- NMR in Biomedicine, 2010, v. 23, n. 4, p. 353, doi. 10.1002/nbm.1468
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- Publication type:
- Article
N-acetyl resonances in in vivo and in vitro NMR spectroscopy of cystic ovarian tumors.
- Published in:
- NMR in Biomedicine, 2009, v. 22, n. 10, p. 1093, doi. 10.1002/nbm.1417
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- Publication type:
- Article
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
- Published in:
- NMR in Biomedicine, 2009, v. 22, n. 5, p. 538, doi. 10.1002/nbm.1367
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- Publication type:
- Article
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
- Published in:
- NMR in Biomedicine, 2008, v. 21, n. 2, p. 138, doi. 10.1002/nbm.1170
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- Publication type:
- Article
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.
- Published in:
- NMR in Biomedicine, 2006, v. 19, n. 2, p. 271, doi. 10.1002/nbm.1018
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- Publication type:
- Article
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional <sup>1</sup>H and two-dimensional <sup>1</sup>H-<sup>13</sup>C NMR.
- Published in:
- NMR in Biomedicine, 2005, v. 18, n. 5, p. 331, doi. 10.1002/nbm.966
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- Publication type:
- Article
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
- Published in:
- Journal of Magnetic Resonance Imaging, 2013, v. 37, n. 4, p. 974, doi. 10.1002/jmri.23852
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- Publication type:
- Article
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4151, doi. 10.1093/hmg/dds123
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- Publication type:
- Article
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2793, doi. 10.1093/hmg/ddh303
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- Publication type:
- Article
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
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- Publication type:
- Article
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
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- Publication type:
- Article
Symptomatic lipid storage in carriers for the PNPLA2 gene.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 807, doi. 10.1038/ejhg.2012.256
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- Publication type:
- Article
Symptomatic lipid storage in carriers for the PNPLA2 gene.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.11
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- Publication type:
- Article
A hypothetical astrocyte-microglia lactate shuttle derived from a H NMR metabolomics analysis of cerebrospinal fluid from a cohort of South African children with tuberculous meningitis.
- Published in:
- Metabolomics, 2015, v. 11, n. 4, p. 822, doi. 10.1007/s11306-014-0741-z
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- Publication type:
- Article
Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach.
- Published in:
- Metabolomics, 2013, v. 9, n. 2, p. 379, doi. 10.1007/s11306-012-0455-z
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- Publication type:
- Article
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
- Published in:
- 2022
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- Publication type:
- journal article
CAD mutations and uridine-responsive epileptic encephalopathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
- Published in:
- 2019
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- Publication type:
- journal article
β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine.
- Published in:
- Magnetic Resonance in Medicine, 2001, v. 46, n. 5, p. 1014, doi. 10.1002/mrm.1289
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- Publication type:
- Article
DTYMK is essential for genome integrity and neuronal survival.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 2, p. 245, doi. 10.1007/s00401-021-02394-0
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- Publication type:
- Article
Normal glycosylation screening does not rule out SRD5A3-CDG.
- Published in:
- 2011
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- Publication type:
- Letter
Reply to Leao-Teles et al.
- Published in:
- 2010
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- Publication type:
- Letter
Autosomal recessive cutis laxa syndrome revisited.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1099, doi. 10.1038/ejhg.2009.22
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- Publication type:
- Article
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34
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- Publication type:
- Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
- Published in:
- 2007
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- Publication type:
- Correction notice
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813
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- Publication type:
- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Publication type:
- Article
Excessive plasma K<sup>+</sup> increase after ischemic exercise in myotonic muscular dystrophy.
- Published in:
- Muscle & Nerve, 1990, v. 13, n. 1, p. 27, doi. 10.1002/mus.880130107
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- Publication type:
- Article
Myoadenylate deaminase deficiency: A clinical, genetic, and biochemical study in nine families.
- Published in:
- Muscle & Nerve, 1988, v. 11, n. 4, p. 312, doi. 10.1002/mus.880110406
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- Publication type:
- Article
Improvement of screening in exertional myalgia with a standardized ischemic forearm test.
- Published in:
- Muscle & Nerve, 1986, v. 9, n. 8, p. 731, doi. 10.1002/mus.880090809
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- Publication type:
- Article
The relation between blood lactate and ammonia in ischemic handgrip exercise.
- Published in:
- 1985
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- Publication type:
- journal article
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
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- Publication type:
- Article
Expression of sialidase and dystroglycan in human glomerular diseases.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 2, p. 478, doi. 10.1093/ndt/gfp465
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- Publication type:
- Article
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
- Published in:
- Glycobiology, 2005, v. 15, n. 12, p. 1312, doi. 10.1093/glycob/cwj017
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- Publication type:
- Article
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03960-2
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- Publication type:
- Article
A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics.
- Published in:
- Metabolomics, 2020, v. 16, n. 5, p. 1, doi. 10.1007/s11306-020-01686-y
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- Publication type:
- Article
Correction to: A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
The GC–MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology.
- Published in:
- Metabolomics, 2019, v. 15, n. 4, p. N.PAG, doi. 10.1007/s11306-019-1513-6
- By:
- Publication type:
- Article