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Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report
BackgroundHemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It...
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Evaluation of contrast sensitivity in patients with congenital red–green color vision deficiency
PurposeTo evaluate mesopic and photopic contrast sensitivity in patients with congenital red–green color vision deficiency regarding with and without...
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Enpp1 deficiency caused chondrocyte apoptosis by inhibiting AMPK signaling pathway
Objective and backgroundThe deficiency of ectonucleotide pyrophosphatase/phosphodiesterase 1 (Enpp1) causes the phenotype similar to knee...
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A new perspective on vitamin B12 deficiency in rheumatology: a case-based review
Vitamin B12 (cobalamin) deficiency is common in patients with rheumatic diseases. Pernicious anemia is a well-known cause, but recent reports suggest...
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Transcobalamin deficiency — a rare genetic defect in transportation of cobalamin; case report
BackgroundVitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive...
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Vitamin C deficiency can lead to pulmonary hypertension: a systematic review of case reports
BackgroundIn the early literature, unintentional vitamin C deficiency in humans was associated with heart failure. Experimental vitamin C deficiency...
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Pathophysiology and management of iron deficiency anaemia in pregnancy: a review
According to World Health Organization (WHO), iron deficiency anaemia (IDA) is considered the most prevalent nutritional deficiency worldwide,...
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The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency
BackgroundThe autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of...
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GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation
Purpose of ReviewGATA2 deficiency is a haploinsufficiency syndrome associated with a wide spectrum of disease, including severe monocytopenia and B...
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Vitamin B12 deficiency in diabetic patients treated with metformin: A narrative review
Metformin is the most prescribed oral hypoglycemic drug and is considered by many health practitioners as the first-line treatment for...
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Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report
BackgroundGlucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second...
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Zinc deficiency induces hypertension by paradoxically amplifying salt sensitivity under high salt intake in mice
BackgroundHypertension is one of the major etiologies that cause chronic kidney disease (CKD) and can exacerbate kidney dysfunction. Zinc is an...
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Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study
BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive neurotransmitter metabolism disorder and is clinically...
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Factor XII deficiency: a clinical and molecular genetic study
Factor XII deficiency is a rare inherited disorder caused by clotting factor XII (FXII, F12) deficiency. It is often asymptomatic but can have both...
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Homozygous missense variant F12 (Gly506Asp) associated with severe factor XII deficiency: a case report
BackgroundFactor XII deficiency can be related to either homozygous or compound heterozygous pathogenic variants in the F12 gene. The disease is...
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Targeted metabolomics profiling in pregnancy associated with vitamin D deficiency
BackgroundVitamin D deficiency is common in pregnancy, however, its effects has not been fully elucidated. Here, we conducted targeted metabolomics...
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Pre- and Post-surgical Prevalence of Thiamine Deficiency in Patients Undergoing Bariatric Surgery: a Systematic Review and Meta-analysis
Thiamine deficiency is a life-threatening nutritional abnormality observed in the patients with obesity and following bariatric surgery. The aim of...
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Management of Midface Deficiency in Syndromic Craniosynostosis with Lefort III Distraction Osteogenesis, Outcomes, and Pitfalls
BackgroundSyndromic craniosynostosis is characterized by premature fusion of cranial sutures resulting in midface deficiency. Lefort III Distraction...
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Intravenous ferric carboxymaltose for the management of iron deficiency and iron deficiency anaemia in children and adolescents: a review
Iron deficiency is the primary cause of anaemia worldwide and is particularly common among children and adolescents. Intravenous (IV) iron therapy is...
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Partial hypopituitarism with ACTH deficiency as the main manifestation as a complication of hemorrhagic fever with renal syndrome
Hypopituitarism is a relatively rare complication of hemorrhagic fever with renal syndrome. However, almost all available reported cases were total...
