نتائج البحث - "Jennifer L Goldstein"

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)

المصدر: Metabolic brain disease, 33(3), 875-884. Springer New York
Metabolic brain disease, Vol. 33, no. 3, p. 875-884 (2018)
Bruun, T U J, Sidky, S, Bandeira, A O, Debray, F-G, Ficicioglu, C, Goldstein, J, Joost, K, Koeberl, D D, Luísa, D, Nassogne, M-C, O’Sullivan, S, Õunap, K, Schulze, A, van Maldergem, L, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of creatine transporter deficiency: international retrospective cohort study ', METABOLIC BRAIN DISEASE, vol. 33, no. 3, pp. 875-884 . https://doi.org/10.1007/s11011-018-0197-3Test
METABOLIC BRAIN DISEASE, 33(3), 875-884. Springer New York

مصطلحات موضوعية: 0301 basic medicine, Male, Neurology, Arginine, Intellectual disability, Creatine treatment, Biochemistry, chemistry.chemical_compound, Epilepsy, 0302 clinical medicine, Genotype, Medicine, Global developmental delay, Child, Phenotype, Treatment Outcome, Child, Preschool, Creatinine, Female, Adult, medicine.medical_specialty, Adolescent, Creatine transporter deficiency, Glycine, Arginine and glycine treatment, macromolecular substances, SLC6A8, Creatine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Seizures, Internal medicine, Intellectual Disability, Humans, business.industry, Infant, Membrane Transport Proteins, Retrospective cohort study, medicine.disease, 030104 developmental biology, chemistry, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5fdbfc8bb05d9a35ebce3d4434c6ddTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85041896490&origin=inwardTest

9

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Pediatrics, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)

المصدر: European journal of paediatric neurology : EJPN, 22(3), 369-379. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369. W.B. Saunders Ltd
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders
European Journal of Paediatric Neurology, 22(3), 369-379. W.B. Saunders Ltd
Khaikin, Y, Sidky, S, Abdenur, J, Anastasi, A, Ballhausen, D, Buoni, S, Chan, A, Cheillan, D, Dorison, N, Goldenberg, A, Goldstein, J, Hofstede, F C, Jacquemont, M-L, Koeberl, D D, Lion-Francois, L, Lund, A M, Mention, K, Mundy, H, O'Rourke, D, Pitelet, G, Raspall-Chaure, M, Tassini, M, Billette de Villemeur, T, Williams, M, Salomons, G S & Mercimek-Andrews, S 2018, ' Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study ', European Journal of Paediatric Neurology, vol. 22, no. 3, pp. 369-379 . https://doi.org/10.1016/j.ejpn.2018.02.007Test

مصطلحات موضوعية: 0301 basic medicine, Male, Ornithine, medicine.medical_specialty, Movement disorders, Creatine therapy, Global developmental delay, Guanidinoacetate methyltransferase deficiency, Creatine, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Seizures, Internal medicine, medicine, Diet, Protein-Restricted, Humans, Language Development Disorders, Retrospective Studies, Movement Disorders, business.industry, Retrospective cohort study, General Medicine, medicine.disease, Seizure, Guanidinoacetate N-methyltransferase, 030104 developmental biology, Treatment Outcome, chemistry, Pediatrics, Perinatology and Child Health, Female, Guanidinoacetate N-Methyltransferase, Neurology (clinical), medicine.symptom, Arginine-restricted diet, business, 030217 neurology & neurosurgery, GAMT deficiency, Cohort study

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f01cafdcf14c1a438d510cd8b009e6Test
https://doi.org/10.1016/j.ejpn.2018.02.007Test

10

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

المؤلفون: Xiaolin Zhu, Gloria T. Haskell, Stephanie DeArmey, Jennifer L. Goldstein, Deeksha Bali, Elizabeth T. Cirulli, Catherine Rehder, Priya S. Kishnani, Zoheb B. Kazi, Mari Mori

المصدر: Molecular Genetics and Metabolism. 122:189-197

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Genotype, Endocrinology, Diabetes and Metabolism, Metabolic myopathy, Disease, Biology, Bioinformatics, Sensitivity and Specificity, Biochemistry, Article, Late Onset Disorders, Diagnosis, Differential, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Exome Sequencing, Glycogen storage disease type II, Genetics, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Exome sequencing, Sanger sequencing, Glycogen Storage Disease Type II, High-Throughput Nucleotide Sequencing, alpha-Glucosidases, Enzyme replacement therapy, medicine.disease, Phenotype, 030104 developmental biology, Mutation, symbols, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94760b4c013de58757592229e0d98eaaTest
https://doi.org/10.1016/j.ymgme.2017.10.008Test

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