Results 71 to 80 of about 4,846 (139)

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

Biology, 2015
An association between sulfur amino acids (methionine, cysteine, homocysteine and taurine) and lipid metabolism has been described in several experimental and population-based studies.
Soraia Poloni, Henk J. Blom, Ida V. D. Schwartz   +2 more
doaj   +1 more source

Neonatal Spontaneous Abdominal Aortic Thrombosis Associated With Hypernatremic Dehydration and Acute Renal Failure: A Case Series

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Spontaneous abdominal aortic thrombosis in neonates due to various causes is a known entity. Hypernatremic dehydration with acute kidney injury/failure can also be one of the aetiologies. A 14‐ and 11‐day‐old term neonate born to primigravida mothers presented to two different facilities with a similar presentation of hypernatremic dehydration
Fauzia Ali Noor, Asha S. Hashi, Rohini Kalagouda Patil, Kennedy Khainga, David Galgallo, Doris Kinuthia, Diana Marangu, Fred Kambuni, Nyambura Karuiki, Naomi Gachara   +9 more
wiley   +1 more source

Homocystinuria [PDF]

Biochemical Journal, 1969
D C, Cusworth, C E, Dent
openaire   +3 more sources

Navigating thrombotic terrain: unveiling a novel homocystinuria mutation associated with thrombophilia in a 16 year old

Bulletin of the National Research Centre
Background Thrombophilia is characterised by an abnormality of blood coagulation that increases thrombosis. Homocystinuria encompasses a group of disorders marked by increased levels of homocysteine and other amino acids detectable in the bloodstream and
Poojitha Tulasi, Amulya Veeramachaneni, Niranjan Kamble, Darshan Rajatadri Rangaswamy   +3 more
doaj   +1 more source

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +1 more source

Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene

Pediatrics and Neonatology, 2011
Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region
Jenn-Tzong Chang, Ying-Yao Chen, Tze-Tze Liu, Mei-Ying Liu, Pao-Chin Chiu   +4 more
doaj   +1 more source

Urgent need for new-born screening and clinical awareness of homocystinuria in Pakistan

Journal of the Pakistan Medical Association
Dear Editor, I wish to draw attention to an under-recognised but significant metabolic disorder, homocystinuria, which remains vastly underdiagnosed in Pakistan.
Muhammad Rizwan Farooq, Romaisa Sultan
doaj   +1 more source

Homocistinemia, factor de riesgo oculto en la enfermedad cerebrovascular isquémica: Presentación de un caso

Revista Cubana de Medicina, 2003
La homocisteína y su metabolismo han sido objeto de estudios, desde la década de los 60, se ha considerado la relación existente entre ella y el desarrollo de aterosclerosis y enfermedades vasculares.
Liván Rodríguez Mutuberría, Yusimí Serra Valdés, Eduardo Álvarez González   +2 more
doaj  

Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report. [PDF]

Front Psychiatry
Wang Q, Ji Z, Wang Y, Qi Z.
europepmc   +1 more source

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria. [PDF]

Mol Genet Metab Rep
Sultan R, Urlacher J, Athey T, Kannu P, Seres P, Mercimek-Andrews S.   +5 more
europepmc   +1 more source