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Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic …

H Cario, DEC Smith, H Blom, N Blau… - The American Journal of …, 2011 - Elsevier
The importance of intracellular folate metabolism is illustrated by the severity of symptoms and
complications caused by inborn disorders of folate metabolism or by folate deficiency. We examined
three children of healthy, distantly related parents presenting with megaloblastic anemia ...
Cited by 1 - Related articles - All 2 versions

A Case Presenting with Ataxic Gait and Dementia due to Vitamin B 12 Deficiency without Megaloblastic Anemia or Subacute Combined Degeneration of the Spinal …

H Iwanami, M Tanaka, H Iwakawa… - Brain and nerve= …, 2011 - ncbi.nlm.nih.gov
Abstract A 36-year-old man was admitted to our hospital because of subacute progressive ataxic
gait and dementia. His blood test results vitamin B<sub>12</sub> deficiency due to presence
of anti-intrinsic factor antibody and his endoscopic examination findings showed chronic ...

Phrynoderma in a patient with megaloblastic anemia

V Sharma, MP Agarwal… - Indian journal of ophthalmology, 2011 - ncbi.nlm.nih.gov
A 15-year-old girl presented with history of anorexia, generalized fatigue, decreased night vision
and skin lesions. She had been ill for around 6 months and had previously received a blood
transfusion elsewhere. She denied any history of fever or any other chronic illness. She ...
Related articles - All 4 versions

Hemorrhagic manifestation of megaloblastic anemia: report of two cases and literature review

I Masoodi, A Kakar, SP Byotra… - Blood Coagulation & …, 2011 - journals.lww.com
A 23-year-old man who is a strict vegetarian with no significant medical history in the past presented
with a history of passage of black tarry stools of 4 days duration with no postural symptoms. There
was no history of drug ingestion or similar history in the past. On examination the patient ...
Related articles - All 4 versions

Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill: A Case Report

Z Aycan, VN Bas, S Çetinkaya… - Journal of Pediatric …, 2011 - journals.lww.com
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an uncommon autosomal recessive
disorder. The disease is caused by mutations in the gene, SLC19A2, encoding a high-affinity
thiamine transporter, which disturbs the active thiamine uptake into cells. Major features ...
Related articles - All 3 versions

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