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Journal of Child Neurology, ISSN 0883-0738, 5/2017, Volume 32, Issue 6, pp. 543 - 549
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at... 
microcephaly | seizures | spasticity | Neu-Laxova syndrome | PGDH | INTELLECTUAL DISABILITY | DISORDERS | PEDIATRICS | NEU-LAXOVA-SYNDROME | 3-PHOSPHOGLYCERATE | CHILD | CLINICAL NEUROLOGY | Limb Deformities, Congenital - genetics | Abnormalities, Multiple - etiology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Seizures - genetics | Ichthyosis - etiology | Humans | Brain Diseases - genetics | Carbohydrate Metabolism, Inborn Errors - complications | Child, Preschool | Limb Deformities, Congenital - therapy | Family Health | Fetal Growth Retardation - genetics | Infant | Male | Psychomotor Disorders - complications | Serine - biosynthesis | Carbohydrate Metabolism, Inborn Errors - genetics | Seizures - complications | Seizures - diagnostic imaging | Young Adult | Psychomotor Disorders - genetics | Ichthyosis - diagnostic imaging | Brain Diseases - therapy | Fetal Growth Retardation - etiology | Ichthyosis - genetics | Female | Microcephaly - therapy | Brain Diseases - etiology | Carbohydrate Metabolism, Inborn Errors - diagnostic imaging | Psychomotor Disorders - diagnostic imaging | Abnormalities, Multiple - genetics | Microcephaly - complications | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Mutation - genetics | Fetal Growth Retardation - therapy | Phosphoglycerate Dehydrogenase - genetics | Phenotype | Abnormalities, Multiple - therapy | Limb Deformities, Congenital - etiology | Adolescent | Limb Deformities, Congenital - diagnostic imaging | Microcephaly - etiology | Phosphoglycerate Dehydrogenase - deficiency | Ichthyosis - therapy
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2017, Volume 264, Issue 7, pp. 1334 - 1342
Journal Article
Georgian medical news, ISSN 1512-0112, 02/2018, Issue Issue, pp. 61 - 64
The aim of this study was to study the macroscopic changes in the skin of patients with various forms of ichthyosis to improve and optimize treatment. A... 
Severity of Illness Index | Humans | Middle Aged | Dermoscopy | Male | Ichthyosis - pathology | Algorithms | Ichthyosis - classification | Ichthyosis - diagnostic imaging | Adolescent | Skin - diagnostic imaging | Adult | Female | Child | Research Design | Skin - pathology
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, p. e49519
Imaging mass spectrometry (IMS) is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well... 
PERFORMANCE LIQUID-CHROMATOGRAPHY | HIGH-SPATIAL-RESOLUTION | GLUCOSYLCERAMIDE | INSTRUMENTATION | EPIDERMAL PERMEABILITY BARRIER | MULTIDISCIPLINARY SCIENCES | DISEASE | STRATUM-CORNEUM CERAMIDES | PHOSPHATIDYLCHOLINES | SPHINGOMYELINS | LIPIDS | Ions - chemistry | Ceramides - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Muscular Diseases - metabolism | Skin - metabolism | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Molecular Imaging | Phosphatidylcholines - chemistry | Ions - metabolism | Phosphatidylcholines - metabolism | Muscular Diseases - diagnosis | Diagnostic Imaging | Skin - chemistry | Ichthyosiform Erythroderma, Congenital - metabolism | Lipids - chemistry | Animals | Ichthyosiform Erythroderma, Congenital - diagnosis | Mass Spectrometry | Mice | Phosphoric Monoester Hydrolases - metabolism | Skin - pathology | Phosphoric Monoester Hydrolases - chemistry | Metabolites | Spectrum analysis | Ceramides | Skin diseases | Skin | Permeability | Plant lipids | Drugs | Pathogenesis | Terrestrial environments | Lipids | Tissues | Water loss | Lasers | Imaging | Ceramide | Biomolecules | Stress concentration | Spectroscopy | Stratum corneum | Abnormalities | Excess water | Epidermis | Ions | Mass spectroscopy | Desorption | Metabolism | Ichthyosis | Storage diseases | Ionization | Diagnostic systems | Mass spectrometry
Journal Article
The Journal of Dermatology, ISSN 0385-2407, 08/2016, Volume 43, Issue 8, pp. 937 - 939
Distinguishing Grover's disease from other papular dermatoses is often a troublesome task. According to two relatively recent case reports, dermoscopy may be... 
inflammatory skin diseases | histology | Grover's disease | dermoscopy | inflammoscopy | PSORIASIS | DERMATOLOGY | Ichthyosis - pathology | Acantholysis - diagnostic imaging | Ichthyosis - classification | Ichthyosis - diagnostic imaging | Humans | Middle Aged | Acantholysis - pathology | Dermoscopy | Female | Male | Acantholysis - classification
Journal Article
ANNALES DE PATHOLOGIE, ISSN 0242-6498, 08/2016, Volume 36, Issue 4, pp. 235 - 244
Journal Article
Taiwanese journal of obstetrics & gynecology, 06/2018, Volume 57, Issue 3, p. 452
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 9, pp. 861 - 872
Journal Article