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Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A151
IntroductionFanconi Bickel Syndrome (FBS) is a rare autosomal recessively inherited inborn error of metabolism due to impaired utilization of glucose and... 
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A325
IntroductionPhenylketonuria (PKU) is the most common and autosomal recessively inherited metabolic disease due to the deficiency of phenylalanine hydroxylase... 
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A49
IntroductionIsovaleric acidemia (IVA) is a rare autosomal recessively inherited metabolic disorder caused by deficiency of isovaleryl-Co A dehydrogenase.... 
Journal Article
International Journal of Paediatric Dentistry, ISSN 0960-7439, 07/2019, Volume 29, Issue 4, pp. 542 - 548
Journal Article
The Turkish journal of pediatrics, ISSN 0041-4301, 2018, Volume 60, Issue 5, p. 584
Doğruel D, Bulut FD, Yılmaz M, Önenli-Mungan N, Altıntaş DU. Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune... 
Journal Article
The Turkish journal of pediatrics, ISSN 0041-4301, 2019, Volume 61, Issue 3, p. 330
Kör D, Şeker-Yılmaz B, Bulut FD, Kılavuz S, Öktem M, Ceylaner S, Yıldızdaş D, Önenli-Mungan N. Clinical features of 27 Turkish Propionic acidemia patients with... 
Journal Article
Cukurova Medical Journal, ISSN 0250-5150, 12/2014, Volume 39, Issue 4
Journal Article
Çukurova Üniversitesi Tıp Fakültesi Dergisi, ISSN 0250-5150, 08/2014, Volume 39, Issue 4, pp. 918 - 921
Melkersson-Rosenthal syndrome (MRS) is a rare neuromucocutaneous syndrome characterized by recurrent facial paralysis, orofacial edema and fissured tongue.... 
Melkersson-Rosenthal syndrome | recurrent facial paralysis | children
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S101 - S101
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S100 - S100
Journal Article
Cukurova Medical Journal, ISSN 2602-3032, 02/2018, Volume 43, Issue 2, pp. 500 - 501
Karotenemi ciltte sarı pigmentasyon (ksantoderma) ve kandaki artmış beta karoten düzeyleri ile karakterize bir klinik durumdur. Çoğu hastada havuç, kabak ve... 
Tıp
Journal Article
The Journal of Pediatric Research, ISSN 2147-9445, 03/2018, Volume 5, Issue 1, pp. 54 - 56
Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a... 
Case studies | Complications and side effects | Genetic aspects | Ichthyosis | Hair | Pneumonia | Intensive care | Congenital diseases | Anemia | Electrolytes | Guardians | Skin | Mutation | Dermatitis | Age | Food | Netherton syndrome | atopy | erythroderma | whole exome sequencing
Journal Article
The Journal of Pediatric Research, ISSN 2147-9445, 03/2018, Volume 5, Issue 1, pp. 7 - 11
Aim: Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts... 
Development and progression | Diagnosis | Children | Alkaptonuria | Diseases | Urine | Proteins | Nutrition research | Pain | Disease | Arthritis | Mutation | Metabolism | Prostate | Drug dosages | Age | ochronosis | homogentisate 1 | arthritis | homogentisic acid | 2 dioxygenate
Journal Article
Cukurova Medical Journal, ISSN 2602-3032, 04/2014, Volume 39, Issue 4
Melkersson-Rosenthal sendromu (MRS), tekrarlayan fasiyal paralizi, orofasiyal ödem, dilde fissürle karakterize nadir bir nöromukokütanöz... 
Tıp
Journal Article
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