Results 121 to 130 of about 19,992,265 (173)

Cobalamin C Deficiency Presenting with CVID-like Immunologic Abnormalities: A Five-Patient Pediatric Case Series. [PDF]

J Clin Immunol
He R, Liu J, Zhao S, Yang H.
europepmc   +1 more source

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review. [PDF]

Medicine (Baltimore)
Cui X, Zhong Y, Yin C.
europepmc   +1 more source

On the diagnosis of cobalamin malabsorption. With special reference to the identification of patients in whom substitution treatment is warranted

, 1998
There is a well-known overlap in serum concentrations of cobalamins between healthy individuals and patients with deficiency. Anaemia and macrocytosis are sometimes lacking in patients with neurological symptoms and macrocytosis may be absent in anaemia ...
Lindgren, Anders 1945-
core   +1 more source

Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China. [PDF]

Intractable Rare Dis Res
Zhang H, Wei Y, Sun Y, Zhang Y, Wang Z, Zou H, Da Y, Zhao Z, Zhang Z, Wu G, Zhao W, Tian C, Yan C, Wang C, Zhao Y.   +14 more
europepmc   +1 more source

Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review. [PDF]

Medicine (Baltimore), 2019
Cui J, Wang Y, Zhang H, Cui X, Wang L, Zheng H.   +5 more
europepmc   +1 more source

Cobalamin C Deficiency-Associated Pigmentary Retinopathy. [PDF]

JAMA Ophthalmol, 2015
Garcia-Gonzalez JM, Neiweem AE, Grassi MA.   +2 more
europepmc   +1 more source

Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy. [PDF]

Kidney Int Rep, 2018
Lemoine M, François A, Grangé S, Rabant M, Châtelet V, Cassiman D, Cornec-Le Gall E, Ambrosetti D, Deschênes G, Benoist JF, Guerrot D.   +10 more
europepmc   +1 more source

Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency. [PDF]

Clin Kidney J, 2018
Petropoulos TE, Ramirez ME, Granton J, Licht C, John R, Moayedi Y, Morel CF, McQuillan RF.   +7 more
europepmc   +1 more source

Cobalamin C deficiency in an adolescent with altered mental status and anorexia. [PDF]

Pediatrics, 2014
Rahmandar MH, Bawcom A, Romano ME, Hamid R.   +3 more
europepmc   +1 more source

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. [PDF]

Ophthalmology, 2016
Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP.   +6 more
europepmc   +1 more source