-
1
المؤلفون: Stephanie Chopko, Millie Young, Vincent J Carson, George V. Mazariegos, Jennifer Hailey, Cora M. Taylor, Barbara Haas-Givler, Karlla W. Brigatti, KaLynn K. Loeven, Erik G. Puffenberger, Adam D. Heaps, Keturah Beiler, Ashlin S. Rodrigues, Kyle Soltys, Emilie R. Muelly, Kevin A. Strauss, Lauren E. Bowser, Zachary Radcliff, Christine Hendrickson, Katie B. Williams, Diana A. Shellmer, D. Holmes Morton, Donna L. Robinson
المصدر: Molecular Genetics and Metabolism. 129:193-206
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Anabolism, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030105 genetics & heredity, Liver transplantation, Bioinformatics, Biochemistry, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Maple Syrup Urine Disease, Amino acid homeostasis, Leucine, Genetics, Humans, Medicine, Cognitive Dysfunction, Child, Molecular Biology, chemistry.chemical_classification, business.industry, Mental Disorders, Maple syrup urine disease, Homozygote, Infant, Middle Aged, medicine.disease, Dehydrogenase deficiency, Diet, Liver Transplantation, Amino acid, Phenotype, chemistry, Child, Preschool, Metabolic control analysis, Female, business, Amino Acids, Branched-Chain, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86af95984cf0f1393318580bd7a2c565Test
https://doi.org/10.1016/j.ymgme.2020.01.006Test -
2
المؤلفون: Kevin A. Strauss, Wildon Farwell, Jihee Sohn, Donna L. Robinson, Freeman Miller, Marco Petrillo, Robert M. Reed, Karlla W. Brigatti, Vincent J Carson, Millie Young
المصدر: MusclenerveREFERENCES. 65(1)
مصطلحات موضوعية: Catheters, Cerebrospinal fluid leak, Physiology, business.industry, Oligonucleotides, Scoliosis, Spinal muscular atrophy, medicine.disease, SMA, Pulmonary function testing, Muscular Atrophy, Spinal, Cellular and Molecular Neuroscience, Grip strength, Catheter, Physiology (medical), Anesthesia, medicine, Humans, Nusinersen, Neurology (clinical), business, Injections, Spinal
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae56870ff27955e031237a75ab30452Test
https://pubmed.ncbi.nlm.nih.gov/34606118Test -
3
المؤلفون: Millie Young, Kazuhiro Aoki, Donna L. Robinson, Christine Hendrickson, Lauren E. Bowser, Zineb Ammous, Adam D. Heaps, Olivia Wenger, Ethan M. Scott, Vincent J Carson, Kevin A. Strauss, Teresa Moser, Jonathan Salvin, James Deline, Steven Gottlieb, Erik G. Puffenberger, Thierry Morlet, Karlla W. Brigatti, Michael Tiemeyer
المصدر: Molecular Genetics and Metabolism. 126:475-488
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Adolescent, Hearing loss, Endocrinology, Diabetes and Metabolism, Physiology, 030105 genetics & heredity, Irritability, Biochemistry, Glycosphingolipids, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Seizures, Gangliosides, Genetics, medicine, Humans, Global developmental delay, Young adult, Child, Molecular Biology, Alleles, Retrospective Studies, Progressive microcephaly, Epilepsy, business.industry, Homozygote, Infant, medicine.disease, Sialyltransferases, United States, Natural history, Child, Preschool, Apgar Score, Female, Apgar score, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a0126caad7111bb8c8025d78c7760daTest
https://doi.org/10.1016/j.ymgme.2019.01.013Test -
4
المؤلفون: Kevin A. Strauss, Erik G. Puffenberger, Vincent J Carson, Christine Hendrickson, Freeman Miller, Donna L. Robinson, Karlla W. Brigatti, Michael D Fox, Millie Young, William Mackenzie, Robert M. Reed
المصدر: Journal of Pediatric Orthopedics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Sedation, medicine.medical_treatment, Oligonucleotides, Scoliosis, Catheterization, Pulmonary function testing, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Outpatients, medicine, Humans, Pain Management, Orthopedics and Sports Medicine, Child, Injections, Spinal, spinal muscular atrophy, intrathecal catheter, business.industry, nusinersen, General Medicine, Spinal muscular atrophy, medicine.disease, Catheter, Spinal Fusion, 030104 developmental biology, Tolerability, Neuromuscular, Anesthesia, Spinal fusion, Pediatrics, Perinatology and Child Health, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Quality of Life, Female, Nusinersen, medicine.symptom, business, SMN1, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70d624fa2f091083a051c183ab2049eTest
https://doi.org/10.1097/bpo.0000000000001247Test -
5
المؤلفون: D. Holmes Morton, Jennifer Hailey, Christine Hendrickson, Erik G. Puffenberger, Katie B. Williams, Millie Young, Donna L. Robinson, Kevin A. Strauss, Freeman Miller, Karlla W. Brigatti, Laura Poskitt, Stephanie Chopko, Vincent J Carson, Keturah Beiler, Lauren E. Bowser, Cora M. Taylor, Barbara Haas-Givler
المصدر: Molecular genetics and metabolism. 131(3)
مصطلحات موضوعية: 0301 basic medicine, Medical food, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biochemistry, Enteral administration, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Carnitine, Genetics, medicine, Humans, Child, Molecular Biology, Amino Acid Metabolism, Inborn Errors, Newborn screening, Glutaryl-CoA Dehydrogenase, business.industry, Brain Diseases, Metabolic, Incidence (epidemiology), Lysine, Infant, Newborn, Brain, Infant, Corpus Striatum, Diet, Glutaric acidemia, Child, Preschool, Cohort, Female, business, 030217 neurology & neurosurgery, Glutaric Acidemia Type 1, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f94860df6ebe7d939bb5bc4e9058ff1Test
https://pubmed.ncbi.nlm.nih.gov/33069577Test -
6
المؤلفون: Donna L. Robinson, Cristopher V. Van Hout, Mindy Kuebler, Millie Young, Kavita Praveen, Erik G. Puffenberger, Scott Mellis, Aris Baras, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Kevin A. Strauss, Alejandra King, Robert N. Jinks, Jeffrey G. Reid, John D. Overton, Frederick E. Dewey, Katie B. Williams, Ian Finnegan, Adam D. Heaps
المصدر: Genetics in Medicine. 20:31-41
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, medicine.medical_specialty, Adolescent, Genetics, Medical, Population, Disease, Pharmacology, Vulnerable Populations, Workflow, Young Adult, 03 medical and health sciences, Underserved Population, 0302 clinical medicine, Internal medicine, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Healthcare Disparities, Allele, Child, education, Exome, Genetic Association Studies, Genetics (clinical), Exome sequencing, Incidental Findings, education.field_of_study, business.industry, Infant, Newborn, Infant, Genomics, Middle Aged, Pedigree, 030104 developmental biology, Child, Preschool, Population Surveillance, Etiology, Female, business, Algorithms, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e296ed65cbcd294f32e59f74a0b1062bTest
https://doi.org/10.1038/gim.2017.76Test -
7
المؤلفون: Millie Young, Portia A. Kreiger, Kevin A. Strauss, Christine Hendrickson, Aaron Chidekel, Katie B. Williams, Christian Pizarro, Donna L. Robinson, Devyani Chowdhury, Catherine Preedy, Erik G. Puffenberger
المصدر: The Journal of Pediatrics. 191:145-151
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, medicine.medical_specialty, Time Factors, Respiratory rate, Heart disease, Ellis-Van Creveld Syndrome, medicine.medical_treatment, 030105 genetics & heredity, Weight Gain, 03 medical and health sciences, Postoperative Complications, Respiratory Rate, Intensive care, Humans, Medicine, Respiratory system, Ellis–van Creveld syndrome, Retrospective Studies, Surgical repair, Mechanical ventilation, business.industry, Infant, Newborn, Infant, medicine.disease, Surgery, Treatment Outcome, 030104 developmental biology, Thoracotomy, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Weight gain, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c0e3d35e899ab8ae71a412e5f8edf2Test
https://doi.org/10.1016/j.jpeds.2017.08.073Test -
8
المؤلفون: Christine Hendrickson, Alana Duffy, Nicholas L. Rider, Kevin A. Strauss, Bridget Wardley, Silvia Tortorelli, Joan Brumbaugh, Donna L. Robinson, D. Holmes Morton, Ann B. Moser, Erik G. Puffenberger
المصدر: Molecular Genetics and Metabolism. 104(1-2):93-106
مصطلحات موضوعية: Male, medicine.medical_specialty, Arginine, Endocrinology, Diabetes and Metabolism, Lysine, Glutaric aciduria type 1, Biochemistry, chemistry.chemical_compound, Endocrinology, Internal medicine, Carnitine, medicine, Genetics, Homeostasis, Humans, Nutritional Physiological Phenomena, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Methionine, Dose-Response Relationship, Drug, Glutaryl-CoA Dehydrogenase, Brain Diseases, Metabolic, Infant, Newborn, Brain, Infant, medicine.disease, Hospitalization, Treatment Outcome, chemistry, Child, Preschool, Female, Immunization, Dietary Proteins, Growth and Development, Leucine, Isoleucine, Glutaric Acidemia Type 1, Lysine transport
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ee4321b1490152e64198a6bf37ccedTest
-
9
المؤلفون: Donna L. Robinson, Peter A. Lee, Kevin A. Strauss, Christine Hendrickson, Abigail R. Benkert, Millie Young
المصدر: The Journal of clinical endocrinology and metabolism. 100(8)
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Water-Electrolyte Imbalance, Context (language use), Comorbidity, Biochemistry, Polymorphism, Single Nucleotide, Severity of Illness Index, Young Adult, Endocrinology, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Young adult, education, Child, Retrospective Studies, education.field_of_study, Adrenal Hyperplasia, Congenital, business.industry, Progesterone Reductase, Biochemistry (medical), Homozygote, Case-control study, Infant, medicine.disease, Prognosis, Case-Control Studies, Child, Preschool, Old Order Amish, HSD3B2, Female, business, Glucocorticoid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::084a49fbb1433f8754d858f5b043e965Test
https://pubmed.ncbi.nlm.nih.gov/26079780Test -
10
المؤلفون: William McGhee, D. N. Finegold, M. Virji, George V. Mazariegos, Kevin A. Strauss, Erik G. Puffenberger, Gerard Vockley, Rakesh Sindhi, D. H. Morton, Christine Hendrickson, Donna L. Robinson, Lynn Seward, L. Cropcho, Robert H. Squires
المصدر: American Journal of Transplantation. 6:557-564
مصطلحات موضوعية: Adult, medicine.medical_specialty, Time Factors, Adolescent, medicine.medical_treatment, Urine, Liver transplantation, Gastroenterology, Maple Syrup Urine Disease, Leucine, Valine, Internal medicine, medicine, Humans, Immunology and Allergy, Pharmacology (medical), Child, Transplantation, business.industry, Maple syrup urine disease, Infant, Hypervitaminosis A, medicine.disease, Liver Transplantation, Surgery, Treatment Outcome, Elective Surgical Procedures, Child, Preschool, Female, Isoleucine, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d27cb954530921f747b38c63fd717acTest
https://doi.org/10.1111/j.1600-6143.2005.01209.xTest