Results 191 to 200 of about 39,677 (355)

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening. [PDF]

Turk Arch Pediatr, 2023
Tin O, Zübarioğlu T, Cansever MŞ, Kıykım E, Aktuğlu-Zeybek Ç.   +4 more
europepmc   +1 more source

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]

, 2001
Chike Bellarmine Item, Sylvia Stöckler‐Ipsiroglu, Carmen Stromberger, Adolf Mühl, M. Alessandri, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni   +8 more
openalex   +1 more source

Interrelatedness of Neurocognitive Domain Functioning Between Unprompted and Prompted Identification Testing With Psychophysical Olfactory Evaluation in a Post‐COVID‐19 Cohort

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective Assessment of olfactory function with psychophysical testing requires cognitive demand to correctly pair test odors with remembered scents. Individuals suffering from long‐Corona Virus Disease 2019 (long‐COVID‐19) may develop a decline in neurocognitive performance, which may be concurrent with persistent olfactory dysfunction (OD ...
Jeremy P. Tervo, Patricia T. Jacobson, Brandon J. Vilarello, Tiana M. Saak, Francesco F. Caruana, Liam W. Gallagher, Joseph B. Gary, David A. Gudis, Paule V. Joseph, Tse‐Hwei Choo, Davangere P. Devanand, Terry E. Goldberg, Jonathan B. Overdevest   +12 more
wiley   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source

Warburg effect mimicking inborn errors of metabolism in childhood hematologic malignancies: A case-based systematic review. [PDF]

World J Clin Pediatr, 2023
Permtawee K, Tengsujaritkul M, Choed-Amphai C, Chanthong S, Mankhemthong K, Sathitsamitphong L, Natesirinilkul R, Charoenkwan P.   +7 more
europepmc   +1 more source

β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine [PDF]

, 2001
Sytske H. Moolenaar, Gudrun Göhlich‐Ratmann, Udo F. H. Engelke, Manfred Spraul, Eberhard Humpfer, Péter Dvortsák, Thomas Voït, Georg F. Hoffmann, Christa Bräutigam, André B. P. Kuilenburg, Albert van Gennip, P. Vreken, Ron A. Wevers   +12 more
openalex   +1 more source

Pixelated pathologies: Camera trapping as a tool for monitoring wildlife health

Journal of Applied Ecology, EarlyView.
Given the increasing emergence of diseases, some with conservation and public health implications, improving and expanding wildlife health surveillance strategies is imperative. Camera trapping is particularly relevant for detecting new outbreaks, monitoring high‐risk zones and evaluating risk mitigation measures. Abstract Camera trapping has become an
Patricia Barroso, Pablo Palencia
wiley   +1 more source

Parents' Perceptions Regarding Their Children's Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism. [PDF]

Children (Basel), 2023
Harings T, Neininger MP, Eisenhofer S, Thiele AG, Kiess W, Bertsche A, Beblo S, Bertsche T.   +7 more
europepmc   +1 more source

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

, 1980
Jean L. Johnson, William R. Waud, K.V. Rajagopalan, M. Durán, F. A. Beemer, S.K. Wadman   +5 more
openalex   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
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