Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
CONCLUSIONS: Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.PMID:38497870 | DOI:10.26355/eurrev_202403_35601 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - March 18, 2024 Category: Drugs & Pharmacology Authors: H Bilgin S Bilge M Binici S Tekes Source Type: research
Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
CONCLUSIONS: Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.PMID:38497870 | DOI:10.26355/eurrev_202403_35601 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - March 18, 2024 Category: Drugs & Pharmacology Authors: H Bilgin S Bilge M Binici S Tekes Source Type: research
Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
CONCLUSIONS: Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.PMID:38497870 | DOI:10.26355/eurrev_202403_35601 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - March 18, 2024 Category: Drugs & Pharmacology Authors: H Bilgin S Bilge M Binici S Tekes Source Type: research
Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
CONCLUSIONS: Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.PMID:38497870 | DOI:10.26355/eurrev_202403_35601 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - March 18, 2024 Category: Drugs & Pharmacology Authors: H Bilgin S Bilge M Binici S Tekes Source Type: research
Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
CONCLUSIONS: Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.PMID:38497870 | DOI:10.26355/eurrev_202403_35601 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - March 18, 2024 Category: Drugs & Pharmacology Authors: H Bilgin S Bilge M Binici S Tekes Source Type: research
Hepatomegaly in a patient with a history of acute myeloid leukemia
In February 2018, a 30-year-old man was referred to the outpatient clinic for recent hepatomegaly. He had a history of acute myeloid leukemia in 2009, treated with cytarabine and doxorubicin, followed a few months later by allogeneic hematopoietic stem cell transplantation. The conditioning regimen included cyclophosphamide and busulfan. The post-transplant course was uneventful. In 2010, the patient developed graft-versus-host disease of the skin and liver, which was rapidly responsive to corticosteroids and cyclosporine. (Source: Journal of Hepatology)
Source: Journal of Hepatology - March 16, 2024 Category: Gastroenterology Authors: Lucile Moga, Val érie Paradis, Onorina Bruno, Dominique Valla, Pierre-Emmanuel Rautou Tags: What Is Your Diagnosis? Source Type: research
Natural history of mucopolysaccharidosis type III in a series of Colombian patients
CONCLUSIONS: MPS III is a challenge for diagnosis, particularly in its early stages and in patients in which the course of the disease is attenuated. This is due to its variable course, non-specific early neuropsychiatric symptoms, and the absence of obvious somatic features compared to other types of MPS. After a definitive diagnosis has been made, interdisciplinary care must be provided for the patient and their family, and support given for the treatment of physical symptoms, ensuring the best possible care and quality of life for the patient and their family, as the condition is neurodegenerative.PMID:38482704 | DOI:10...
Source: Revista de Neurologia - March 14, 2024 Category: Neurology Authors: L Cabarcas J L Ram ón E Espinosa G P Guerrero N Mart ínez N Santamar ía I Lince S Reyes Source Type: research
Natural history of mucopolysaccharidosis type III in a series of Colombian patients
CONCLUSIONS: MPS III is a challenge for diagnosis, particularly in its early stages and in patients in which the course of the disease is attenuated. This is due to its variable course, non-specific early neuropsychiatric symptoms, and the absence of obvious somatic features compared to other types of MPS. After a definitive diagnosis has been made, interdisciplinary care must be provided for the patient and their family, and support given for the treatment of physical symptoms, ensuring the best possible care and quality of life for the patient and their family, as the condition is neurodegenerative.PMID:38482704 | DOI:10...
Source: Revista de Neurologia - March 14, 2024 Category: Neurology Authors: L Cabarcas J L Ram ón E Espinosa G P Guerrero N Mart ínez N Santamar ía I Lince S Reyes Source Type: research
