Results 111 to 120 of about 8,712 (196)

Hepatic cobalamin deficiency induced by hydroxycobalamin[c-lactam] treatment in rats is associated with decreased mitochondrial mRNA contents and accumulation of polycistronic mitochondrial RNAs.

, 1994
Frederic Leeds, Eric P. Brass
openalex   +1 more source

Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy: a case series of four patients [PDF]

, 2019
Jinrong Liu, Xiaolei Tang, Chunju Zhou, Hui Xu, Haiming Yang, Huimin Li, Shunying Zhao   +6 more
openalex   +1 more source

Propiyonat Metabolizması Bozukluklarında Kullanılan Tıbbi Formülaların Lösin İçeriğinin Tedavi Üzerine Etkisi

Ankara Sağlık Bilimleri Dergisi
Lösin, insan vücudunda birçok önemli etkiye sahip metabolik bir düzenleyicidir. Propiyonat metabolizma bozukluğu olan hastalarda kullanılan tıbbi formülalar propiyojenik amino asitleri içermezken lösin amino asidini fazla miktarda içermektedir.
Furkan Yolcu, Gülhan Samur
doaj  

Response of Sickle Cell Anaemia Patients to Therapeuctic Trial of Amples A&B

Gomal Journal of Medical Sciences, 2010
Background: Sickle cell anaemia is common in the Niger delta region of Nigeria. This study was conducted to indirectly access the significance of cobalamin deficiency in sickle cell anaemia using therapeutic trial of Amples A&B containing cobalamin ...
G.N. Bazuaye, N.K.D. Halim, C.E. Omoti
doaj  

Spectrum of Ophthalmological Manifestations of Early-Onset Cobalamin C Deficiency

, 2017
Introduction: Cobalamin C deficiency is an autosomal recessive disorder of intracellular vitamin B12 metabolism caused by MMACHC gene mutations that leads to combined methylmalonic aciduria and homocystinuria. The majority of patients have early-onset disease with severe ophthamological manifestations as well as neurological impairment and other ...
openaire   +1 more source

A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge

, 2022
Toon Schiemsky, Rik Vandenberghe, Pieter Vermeersch, David Cassiman, Wouter Meersseman, Philippe Demaerel, Lode Van Overbeke, Scott Ailliet   +7 more
openalex   +1 more source

A Case with Cobalamin-C-Deficiency and Severe Heart Failure Resolved by LVAD Implantation and Subsequent Heart Transplantation [PDF]

Clara Hjalmarsson, Charlotte Nordberg Backelin, Niklas Bergh, Anna Thorén, John Sloane, Irini Manoli, Charles P. Venditti, Göran Dellgren   +7 more
openalex   +1 more source

Skin Hyperpigmentation as Initial Manifestation of Vitamin B₁₂ Deficiency: A Case of Delayed Diagnosis With Late-Onset Subacute Combined Degeneration of the Cord. [PDF]

Case Rep Med
Adjei P, Manu KO, Asante Addison PK, Ntow E.   +3 more
europepmc   +1 more source

Cobalamin C Deficiency: An Uncommon Cause of Hemolytic Uremic Syndrome

Indian Pediatrics
Kanika Singh, Mukul Pandey, Rajiv Uttam, Sidharth Kumar Sethi   +3 more
openaire   +1 more source

Addison-like Clinical Phenotype Without Adrenal Insufficiency: A Rare Manifestation of Pernicious Anemia. [PDF]

JCEM Case Rep
Castilho IG, Araújo NTN, Araújo DMVR.
europepmc   +1 more source