Dr. Maria Josefina Coll M.D.
Pediatrician
#8 Colon Pacheco Street Salinas PR, 00751About
Dr. Maria Coll is a pediatrician practicing in Salinas, PR. Dr. Coll is a doctor who specializes in the health care of children. As a pedicatrician, Dr. Coll diagnoses and treats infections, injuries, diseases and other disorders in children. Pediatricians typically work with infants, children, teenagers and young adults up to age 21. They practice medical care as well as preventative health care. Dr. Coll can oversee and manage the physical, mental and emotional health of their patients.
Provider Details
Expert Publications
Data provided by the National Library of Medicine- Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.
- Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
- A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.
- [Late infantile and juvenile form of GM2-gangliosidosis variant B1].
- Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definition.
- Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct.
- Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
- Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis.
- Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
- Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
- Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A
- [The contribution of molecular genetics to hereditary neurometabolic disorders].
- Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
- X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
- [Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase].
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