| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/S1096-7192(02)00172-5 |
| P698 | PubMed publication ID | 12468273 |
| P50 | author | Ron A. Wevers | Q42739481 |
| P2093 | author name string | Alan Cooper | |
| Wim J Kleijer | |||
| Jan Smeitink | |||
| Karen H Friderici | |||
| Katherine A Nummy | |||
| Rebecca Bedilu | |||
| P2860 | cites work | Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis | Q24310293 |
| Monogenic traits are not simple: lessons from phenylketonuria | Q33677027 | ||
| Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways | Q33918965 | ||
| Modifier genes convert "simple" Mendelian disorders to complex traits | Q34043025 | ||
| Quality control of mRNA function | Q34156109 | ||
| Human beta-mannosidase deficiency associated with peripheral neuropathy | Q34347960 | ||
| Consequences of complexity within biological networks: robustness and health, or vulnerability and disease | Q34396098 | ||
| Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency | Q34735482 | ||
| Cellular pathology of lysosomal storage disorders. | Q40870656 | ||
| Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase | Q41777401 | ||
| Beta-mannosidosis in two brothers with hearing loss | Q41849879 | ||
| Bovine kidney beta-mannosidase: purification and characterization | Q42053569 | ||
| Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics | Q42576797 | ||
| Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes | Q47901864 | ||
| Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis | Q48059409 | ||
| Biochemical and morphological expression of early prenatal caprine beta-mannosidosis | Q48694010 | ||
| [Beta mannosidosis: a new case] | Q50510524 | ||
| Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. | Q50554523 | ||
| Purification and characterization of beta-mannosidase from human placenta. | Q52064684 | ||
| β‐Mannosidase deficiency in a female infant with epileptic encephalopathy | Q52238744 | ||
| Molecular Cloning and Characterization of Bovine β-Mannosidase | Q56602484 | ||
| Purification and properties of human urinary β-d-mannosidase | Q57675742 | ||
| Oligosaccharides accumulated in the bovineβ-mannosidosis kidney | Q58011170 | ||
| Beta-mannosidosis and ethanolaminuria in a female patient | Q68011320 | ||
| Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability | Q68193807 | ||
| Novel storage products in human beta-mannosidosis | Q68363896 | ||
| Alpha- and beta-mannosidoses | Q68363969 | ||
| Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives | Q70994676 | ||
| Lysosomal storage diseases | Q72184041 | ||
| Human beta-mannosidase deficiency | Q93535914 | ||
| P433 | issue | 4 | |
| P921 | main subject | beta-mannosidosis | Q291617 |
| P304 | page(s) | 282-290 | |
| P577 | publication date | 2002-12-01 | |
| P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
| P1476 | title | Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. | |
| P478 | volume | 77 |
| Q37127603 | A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus |
| Q21261509 | A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant |
| Q30513706 | A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation. |
| Q81082863 | Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures |
| Q64039252 | Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis |
| Q58744635 | Bone health in patients with inborn errors of metabolism |
| Q33947337 | Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent |
| Q92793966 | Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization |
| Q81484389 | Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations |
| Q37580771 | Mental retardation and inborn errors of metabolism. |
| Q80099730 | Molecular analysis in two beta-mannosidosis patients: description of a new adult case |
| Q33553008 | Mutations in four glycosyl hydrolases reveal a highly coordinated pathway for rhodopsin biosynthesis and N-glycan trimming in Drosophila melanogaster |
| Q35103799 | Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. |
| Q37792979 | Psychiatric and behavioral manifestations of lysosomal storage disorders |
| Q34005690 | Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults |
| Q92459814 | β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA |
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