Results 151 to 160 of about 11,732 (218)

Metabolomic profiling in phenylketonuria: a systematic review of human studies. [PDF]

Metabolomics
Gonzalez-Rodriguez A, Urpi-Sarda M, Barrau-Martinez B, Campins-Machado FM, Bakkali-Aissaoui H, Pané A, Moreno PJ, Ortega E, Garcia-Villoria J, Ormazabal A, Garcia-Arenas D, Junqué C, Garrabou G, Llorach R, Consortium PKU.cat.   +14 more
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Elevated beta-hydroxybutyrate within a pediatric population and its associated pathology: A retrospective case series. [PDF]

J Forensic Sci
Haghandish N, Girdwood A, Milroy C, Parai J.   +3 more
europepmc   +1 more source

Neuroimaging in inborn errors of immunity: More than infections. [PDF]

Neuroradiology
Sousa Brandão P, Conceição C, Farela Neves J.   +2 more
europepmc   +1 more source

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet. [PDF]

Healthc Inform Res
Franceschetto BF, Orlandi JM, Rosa WC, Scortegagna ML, Farret L, Schwartz IVD, Poloni S.   +6 more
europepmc   +1 more source

Transcriptional profiling reveals glucose-dependent regulation of <i>COL13A1</i> mRNA in Pompe patients: Prospect for a novel disease mechanism. [PDF]

Genes Dis
Uyttebroeck S, Ngoc DV, Osei R, Dohr K, Giron P, Dequeker BJH, Seneca S, Sermon K, Hes FJ, Gheldof A.   +9 more
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A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
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AN INBORN ERROR OF LIPID METABOLISM

Pediatrics, 1959
The present report concerns a new clinical syndrome characterized by hepatomeggaly, retardation of physical and mental growth, and a disturbance of lipids in the plasma. The abnormalities are present in two siblings born of parents who are second cousins. As far as can be determined, none of the six other siblings is affected.
J A, BIGLER, R F, MAIS, R M, DOWBEN, D Y, HSIA   +3 more
openaire   +2 more sources

Inborn errors of lipid metabolism-dermatological aspects

Clinical and Experimental Dermatology, 1988
Summary Skin manifestations of inborn errors of metabolism may be the first alerting clue that leads to their diagnosis. Therefore, practising dermatologists should he familiar with presenting symptoms as well as diagnostic alternatives in this field.
R M, Knobler, S, Becerano, W, Gebhart
openaire   +2 more sources

The enzymatic diagnosis of some inborn errors of lipid metabolism

Pathology, 1975
Work is currently in progress in this laboratory to establish and extend existing methods for the perinatal diagnosis of inborn errors of metabolism by the measurement of a wide range of enzyme activities, with particular emphasis on those associated with sphingolipid storage disorders.
W.F. Carey, G.N. Hill, A. Croser, A.C. Pollard   +3 more
openaire   +1 more source