Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Homocystinuria with methylmalonic aciduria: two cases in a sibship.

× No keyword cloud information.

21 in total

1. Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Authors: F A Wijburg; D S Rosenblatt; G D Vos; J W Oorthuys; L G van't Hek; B J Poorthuis; M K Sanders; R B Schutgens
Journal: Eur J Pediatr Date: 1992-02 Impact factor: 3.183

2. Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

Authors: Celia Atkinson; Isabelle R Miousse; David Watkins; David S Rosenblatt; Julian A J Raiman
Journal: JIMD Rep Date: 2014-08-26

3. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

Authors: H F Willard; I S Mellman; L E Rosenberg
Journal: Am J Hum Genet Date: 1978-01 Impact factor: 11.025

4. Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

Authors: I Mellman; H F Willard; L E Rosenberg
Journal: J Clin Invest Date: 1978-11 Impact factor: 14.808

5. Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.

Authors: S P Stabler; P D Marcell; E R Podell; R H Allen; D G Savage; J Lindenbaum
Journal: J Clin Invest Date: 1988-02 Impact factor: 14.808

Homocystinuria with methylmalonic aciduria: two cases in a sibship.

1. Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

2. Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.

3. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

4. Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

5. Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.

Review 6. [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

Review 7. Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

8. Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

9. Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.

10. Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.