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Turkish Journal of Gastroenterology, ISSN 1300-4948, 01/2019, Volume 30, Issue 1, pp. 105 - 108
Journal Article
Dermatology Online Journal, ISSN 1087-2108, 10/2011, Volume 17, Issue 10, pp. 6 - 6
Journal Article
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 | Index Medicus
Journal Article
BMJ OPEN, ISSN 2044-6055, 03/2017, Volume 7, Issue 3
Introduction: Atopic dermatitis (AD) is the most common skin disorder in young children worldwide, with a high impact on morbidity and quality of life. To... 
ALLERGIC DISORDERS | MEDICINE, GENERAL & INTERNAL | ICHTHYOSIS VULGARIS FAMILIES | VARIANTS | FATTY-ACID-COMPOSITION | PREDISPOSING FACTOR | DISEASE | FILAGGRIN GENE | MUTATIONS | CHINESE PATIENTS | PREGNANCY
Journal Article
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 04/2009, Volume 129, Issue 4, pp. 870 - 878
Journal Article
Anais Brasileiros de Dermatologia, ISSN 0365-0596, 09/2018, Volume 93, Issue 5, pp. 671 - 679
BACKGROUND: Current data regarding the associated factors of prurigo nodularis are still uncertain, except for atopic predisposition. OBJECTIVES: The purposes... 
Female | Prurigo | Dermatitis | Atopic | ETIOLOGY | BARRIER FUNCTION | STRATUM-CORNEUM | LESIONS | DERMATOLOGY | atopic | IMPACT | ITCH | DISEASES | SKIN | NERVE-FIBER DENSITY | BURDEN | Ichthyosis - etiology | Humans | Middle Aged | Prurigo - etiology | Male | Young Adult | Ichthyosis - pathology | Age of Onset | Prurigo - pathology | Adult | Pruritus - etiology | Retrospective Studies | Pruritus - pathology | Index Medicus | Investigation | Dermatitis, atopic
Journal Article
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 11/2014, Volume 31, Issue 6, pp. e114 - e115
Harlequin color change is a distinctive cutaneous phenomenon presenting as a well‐demarcated color change, with half of the body displaying erythema and the... 
PEDIATRICS | DERMATOLOGY | Humans | Ichthyosis, Lamellar - etiology | Male | Paracentesis - adverse effects | Gestational Age | Abdomen - surgery | Young Adult | Erythema - etiology | Hemochromatosis - complications | Pallor - etiology | Female | Infant, Newborn | Hydrops Fetalis - etiology | Infants (Newborn) | Hemochromatosis | Index Medicus
Journal Article
Pan African Medical Journal, ISSN 1937-8688, 06/2015, Volume 21, pp. 110 - 110
Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct... 
Hydrops | Gaucher disease | Perinatal form | Lysosomal storage disorder | Ichthyosis - etiology | Hydrops Fetalis - diagnosis | Humans | Arthrogryposis - etiology | Splenomegaly - etiology | Female | Gaucher Disease - physiopathology | Gaucher Disease - diagnosis | Infant, Newborn | Hepatomegaly - etiology | Hydrops Fetalis - etiology | Index Medicus
Journal Article
Indian Journal of Dermatology, Venereology and Leprology, ISSN 0378-6323, 11/2017, Volume 83, Issue 6, pp. 728 - 729
Journal Article
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