المؤلفون: Aleksandra Jezela-Stanek, Witold Blaz, Artur Gora, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska

المصدر: Diagnostics, Vol 10, Iss 10, p 821 (2020)

مصطلحات موضوعية: molybdenum cofactor deficiency type B, MOCS2 gene, crystal protein structure, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/10/10/821; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/1c2c36dbea9d4297b1e7a043737ab038

المؤلفون: Witold Blaz, Jolanta Sykut-Cegielska, Katarzyna Kusmierska, Aleksandra Jezela-Stanek, Artur Góra, Malgorzata Bochenska

المصدر: Diagnostics, Vol 10, Iss 821, p 821 (2020)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, lcsh:R5-920, molybdenum cofactor deficiency type B, Clinical Biochemistry, Metabolic disorder, crystal protein structure, Biology, medicine.disease, medicine.disease_cause, Molybdopterin synthase complex, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, MOCS2 gene, medicine, Clinical significance, Hypouricemia, lcsh:Medicine (General), Molybdenum cofactor deficiency, 030217 neurology & neurosurgery, Exome sequencing, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a64f705da3663a011a2f1417629f4220
https://www.mdpi.com/2075-4418/10/10/821

المؤلفون: Alex Veldman, Linda C. Meiners, Terry G J Derks, Roelineke J. Lunsing, Charlotte M A Lubout, Francjan J. van Spronsen, Jan Jaap H. M. Erwich, Guenter Schwarz, Klasien A. Bergman

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: European Journal of Paediatric Neurology, 22(3), 536-540. ELSEVIER SCI LTD

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cyclic pyranopterin monophosphate, 030105 genetics & heredity, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Internal medicine, prenatal Magnetic Resonance Imaging, medicine, Journal Article, Humans, MoCD-A, Molybdenum cofactor deficiency, Cyclic pyranopterin mono-phosphate, Metal Metabolism, Inborn Errors, medicine.diagnostic_test, Brain, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Molybdenum cofactor deficiency type A, Endocrinology, chemistry, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, Female, cPMP, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655417bca318e60699982a2935f7a9c5
https://research.rug.nl/en/publications/9dcb7cb5-b850-405f-a021-ae63147f6092

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المؤلفون: Belaidi A.A., Bowhay S., Christodoulou J., Derks T.G., Hennermann J.B., Jameson E., Konig K., McGregor T.L., Font-Montgomery E., Santamaria-Araujo J.A., Santra S., Vaidya M., Vierzig A., Wassmer E., Weis I., Wong F.Y., Veldman A., Schwarz G., Schwahn B.C., Van Spronsen F.J.

مصطلحات الفهرس: human, article, brain disease/dt [Drug Therapy], clinical article, cohort analysis, compassionate use, convulsion, disease marker, drug efficacy, drug safety, drug substitution, female, general condition improvement, hospital admission, human cell, infant, male, multicenter study, newborn, observational study, priority journal, prospective study, cyclic pyranopterin phosphate/ct [Clinical Trial], cyclic pyranopterin phosphate/dt [Drug Therapy], cyclic pyranopterin phosphate/iv [Intravenous Drug Administration], cysteine/ec [Endogenous Compound], DNA/ec [Endogenous Compound], molybdenum complex/ec [Endogenous Compound], unclassified drug, urate/ec [Endogenous Compound], xanthine/ec [Endogenous Compound], molybdenum cofactor deficiency type a/dt [Drug Therapy], molybdenum cofactor deficiency type b/dt [Drug Therapy], S-sulphocysteine/ec [Endogenous Compound], molybdenum cofactor deficiency type a, molybdenum cofactor deficiency type b, s sulphocysteine/ec [Endogenous Compound], Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/27395
The Lancet
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المؤلفون: Schwarz G., Yaplito-Lee J., Wong F., Ramsden C.A., Reiss J., Cook I., Fairweather J., Veldman A., Santamaria-Araujo J.A., Sollazzo S., Pitt J., Gianello R.

مصطلحات الفهرس: case report, convulsion, disease severity, drug dose increase, early diagnosis, electroencephalogram, enzyme activity, epileptic discharge, feasibility study, female, human, infant, metabolic disorder/dt [Drug Therapy], metabolic disorder/cn [Congenital Disorder], metabolic disorder/di [Diagnosis], muscle twitch, nerve cell lesion/et [Etiology], nerve degeneration, newborn screening, priority journal, rare disease, substitution therapy, treatment outcome, biological marker, cysteine derivative, pterin derivative/do [Drug Dose], pterin derivative/dt [Drug Therapy], sulfite, sulfite oxidase/ec [Endogenous Compound], thiosulfate, unclassified drug, uric acid, xanthine, xanthine oxidase/ec [Endogenous Compound], molybdenum cofactor deficiency type A/cn [Congenital Disorder], molybdenum cofactor deficiency type A/di [Diagnosis], molybdenum cofactor deficiency type A/dt [Drug Therapy], cyclic pyranopterin monophosphate/do [Drug Dose], cyclic pyranopterin monophosphate/dt [Drug Therapy], cyclic pyranopterin monophosphate/iv [Intravenous Drug Administration], s sulfocysteine, alertness, article, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/30913
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المؤلفون: Lubout C.M.A., Erwich J.J., Bergman K.A., Lunsing R.J., Schwarz G., Veldman A., van Spronsen F.J., Meiners L., Derks T.G.J.

مصطلحات الفهرس: amplitude-integrated EEG, MOCS1 gene, molybdenum cofactor deficiency type a, case report, Apgar score, article, child, clinical article, cognition, disease activity, Dubowitz score, female, gene, gene mutation, homozygosity, human, inborn error of metabolism, motor performance, nuclear magnetic resonance imaging, preschool child, priority journal, seizure/dt [Drug Therapy], single drug dose, cyclic pyranopterin phosphate, phenobarbital/dt [Drug Therapy], Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/37418
European Journal of Paediatric Neurology
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