OpenAlex konusu

Metabolism and Genetic Disorders

Bu sayfa OpenAlex konu etiketine göre çalışmaları ve o konuda görünen akademisyenleri listeler. YÖKSİS temel alan / yan dal değildir.

OpenAlex 4.124 eser 137 yazar konusu

Çalışmalar

4.124 eser

Altitude adaptation in Tibetans caused by introgression of Denisovan like DNA 2014
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.9%
Özet henüz yok.
- MEHMET SOMEL
Monitoring the Snow covered Areas from NOAA AVHRR images in the Eastern Part of Turkey 2002
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.9%
Özet henüz yok.
- SEVDA ZUHAL AKYÜREK
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency 1999
OpenAlex üst %1 OpenAlex 99.6%
Özet henüz yok.
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency 2006
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 98.1%
Özet henüz yok.
- ALİ DURSUN
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness 2012
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 98.3%
Özet henüz yok.
- SEMA KALKAN UÇAR
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score 2020
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 97.6%
BACKGROUND: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do…
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score 2020
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 97.6%
BACKGROUND: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do…
- ESİN FİGEN DOĞU
The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients 1997
OpenAlex 87.9%
OBJECTIVES: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardati…
Effects of common anti-epileptic drug monotherapy on serum levels of homocysteine, Vitamin B12, folic acid and Vitamin B6 2006
OpenAlex üst %10 OpenAlex 95.5%
Özet henüz yok.
Relationships Between Serum Free Fatty Acids and Zinc, and Attention Deficit Hyperactivity Disorder: A Research Note 1996
OpenAlex 70.9%
The purpose of this study is to evaluate the relationships between serum free fatty acids (FFA) and zinc, and attention deficit hyperactivity disorder (ADHD). Forty eight children with ADHD (33 boys, 15 girls) were included in the patient group and 45 healthy volunteer children (30 boys, 15 girls) constituted the cont…
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion 2013
YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 95.2%
Özet henüz yok.
- HASAN TAYFUN ÖZÇELİK
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 2004
OpenAlex 81.9%
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct a…

Akademisyenler

137 akademisyen