Results 151 to 160 of about 1,993 (190)

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias. [PDF]

Clin Genet
Yin K, Qi Q.
europepmc   +1 more source

Mesothelin Expression in Acute Leukemia: Correlations With Immunophenotype, Cytogenetics, and Mutational Status. [PDF]

Appl Immunohistochem Mol Morphol
Ashour DN, Abbas MA, Sughayer MA.
europepmc   +1 more source

Diagnosis and treatment of vitamin B12 deficiency in children. [PDF]

Front Nutr
Kanvinde P, Khurana R, Mudaliar S.
europepmc   +1 more source

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review. [PDF]

Metabol Open
Ren Y, Dang H, Fu Y, Liu C, Li J, Cai J.
europepmc   +1 more source

Dissecting the role of vitamin B₁₂ metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries. [PDF]

Differentiation
Pinales BE, Palomino CE, Rosas-Acosta G, Francia G, Quintana AM.   +4 more
europepmc   +1 more source

Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China. [PDF]

Front Neurol
Qu R, Han A, Zhao Y, Qu X, Zhu Y.
europepmc   +1 more source

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes. [PDF]

Pediatr Res
Hao L, Ling S, Ding S, Qiu W, Zhang H, Zhang K, Chen T, Gu X, Liang L, Han L.   +9 more
europepmc   +1 more source

INVESTIGATION ON A MMACHC MUTANT FROM cblC DISEASE

Longo, L, Carrotta, R, Passantino, R, Mangione, Mr, Randazzo, L, Martorana, V   +5 more
openaire   +1 more source

Studying A Rare Disease from a Biophysical Point of View: The Example of Cblc

Lisa Longo, Rita Carrotta, Maria Assunta Costa, Rosa Passantino, Maria Rosalia Mangione, Loredana Randazzo, Maria Grazia Ortore, Michela Bollati, Matteo De Rosa, Mario Milani, Adrian Velazquez Campoy, Marco Tutone, Vincenzo Martorana, Silvia Vilasi   +13 more
openaire   +2 more sources

Hyperpyrexia Resulting in Encephalopathy in a 14-Month-Old Patient With cblC Disease

Brain and Development, 2011
Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs.
Sarah C Grünert, Andrea Superti-Furga, Jörn Oliver Sass   +2 more
exaly   +5 more sources