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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2013, Volume 36, Issue 4, pp. 613 - 619
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders... 
3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY | SEIZURES | ENZYME | AMINO-ACIDS | BIOSYNTHESIS | PATIENT | MUTATIONS | CEREBROSPINAL-FLUID | 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY | Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | PHOSPHATASE DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Seizures - blood | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Phosphoric Monoester Hydrolases - deficiency | Seizures - drug therapy | Child, Preschool | Infant | Serine - biosynthesis | Young Adult | Microcephaly - blood | Microcephaly - cerebrospinal fluid | Adult | Amino Acid Metabolism, Inborn Errors - pathology | Child | Transaminases - deficiency | Infant, Newborn | Microcephaly - drug therapy | Serine - blood | Serine - deficiency | Transaminases - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - blood | Psychomotor Disorders - drug therapy | Serine - cerebrospinal fluid | Adolescent | Seizures - cerebrospinal fluid | Transaminases - blood | Phosphoglycerate Dehydrogenase - deficiency | Psychomotor Disorders - blood | Psychomotor Disorders - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - drug therapy | Physiological aspects | Enzymes | Seizures (Medicine) | Serine | Medical genetics
Journal Article
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2016, Volume 126, Issue 8, pp. 2881 - 2892
Journal Article
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1196 - 1203
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2016, Volume 47, Issue 2, pp. 128 - 131
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and... 
Cerebellum | Thrombocytopenia | Humans | Receptors, Thrombopoietin | Polymicrogyria | MPL | Infant | Male | CNS | amegakaryocytic | Mutation, Missense | congenital | Gestational Age | Intracranial Hemorrhages | Journal Article | Central Nervous System | CAMT | Short Communication | thrombocytopenia | C-MPL GENE | PEDIATRICS | MUTATIONS | THROMBOPOIETIN | CLINICAL NEUROLOGY
Journal Article
American Journal of Medical Genetics A, ISSN 1552-4825, 01/2014, Volume 164A, Issue 1, pp. 29 - 35
Journal Article