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The New England Journal of Medicine, ISSN 0028-4793, 01/2005, Volume 352, Issue 4, pp. 362 - 372
Journal Article
Journal of PeriAnesthesia Nursing, ISSN 1089-9472, 08/2016, Volume 31, Issue 4, pp. e36 - e37
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2012, Volume 58, Issue 2, pp. 350 - 357
Background & Aims Hepatocellular adenomas (HCA) are benign liver tumors mainly related to oral contraception and classified into 4 molecular subgroups:... 
Gastroenterology and Hepatology | Hepatocellular adenoma | Glycolysis | Hepatocellular carcinoma | Glycogen storage disease | Metabolism | Carcinogenesis | Fatty acid synthesis | PATHWAYS | MANAGEMENT | SUBTYPE CLASSIFICATION | CANCER | SOMATIC MUTATIONS | INACTIVATION | GENETICS | LIVER | FATTY-ACID SYNTHASE | GASTROENTEROLOGY & HEPATOLOGY | GTP-Binding Protein alpha Subunits, Gs - metabolism | Liver - pathology | Hepatocyte Nuclear Factor 1-alpha - genetics | Cytokine Receptor gp130 - genetics | Humans | Gene Expression Regulation, Neoplastic | Male | Gene Expression Profiling | Hepatocyte Nuclear Factor 1-alpha - metabolism | GTP-Binding Protein alpha Subunits, Gs - genetics | Glycogen Storage Disease Type I - epidemiology | Young Adult | Liver Neoplasms - epidemiology | Chromogranins | Adenoma, Liver Cell - epidemiology | Adult | Female | Adenoma, Liver Cell - genetics | STAT3 Transcription Factor - genetics | STAT3 Transcription Factor - metabolism | Cytokine Receptor gp130 - metabolism | Liver Neoplasms - genetics | Comorbidity | Liver - metabolism | Adenoma, Liver Cell - metabolism | Glycogen Storage Disease Type I - metabolism | beta Catenin - metabolism | beta Catenin - genetics | Glycogen Storage Disease Type I - genetics | Adolescent | Liver Neoplasms - metabolism | Glucose metabolism | Liver cancer | Synthesis | Glycogen | Chemical properties | Fatty acids | Tumors | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 304 - 309
There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an... 
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | MEDICINE, RESEARCH & EXPERIMENTAL | MUCOPOLYSACCHARIDOSIS-I | ASSAY | DISORDERS | CARDS | DRIED BLOOD SPOTS | RETROSPECTIVE DIAGNOSES | ENZYMES | FABRY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | FILTER-PAPER | ENZYMATIC DIAGNOSIS | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Index Medicus | Niemann-Pick-A | B disease
Journal Article
Journal Article
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, ISSN 1077-4114, 05/2019, Volume 41, Issue 4, pp. E260 - E262
Background: Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin.... 
secondary | ONCOLOGY | LYMPHOHISTIOCYTOSIS | hemophagocytic lymphohystiocytosis | PEDIATRICS | type Ia glycogen storage disease | INFANT | HEMATOLOGY | Case studies | Children | Diagnosis | Diseases
Journal Article
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2015, Volume 65, Issue 10, pp. A609 - A609
  Case: 54 year old woman with history of unspecified connective tissue disease on hydroxychloroquine and breast cancer s/p lumpectomy and chemoradiation 4... 
Cardiovascular | Internal Medicine | Glycogen | Electrocardiography | Ultrasonic imaging | Mutation | Disease | Cardiomyopathy
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2018, Volume 41, Issue 6, pp. 911 - 912
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 2014, Volume 25, Issue 3, pp. 139 - 144
Journal Article