J. Cabello

发表

Long-term effect of imiglucerase in Latin American children with Gaucher disease type 1: lessons from the International Collaborative Gaucher Group

A. Linares, I. Sarmiento, A. Gwosdow, 2014 .

25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias

J. Cabello, C. Arias, F. Salazar, 2021, Journal of Inborn Errors of Metabolism and Screening.

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America

Ana Martins, R. Giugliani, A. Acosta, 2014, Genetics and molecular biology.

Pompe disease: clinical perspectives

D. Marsden, J. Cabello, 2016 .

Update on Dietary Compliance, Nutritional Status, and Neuropsychological Functioning in the Chilean Phenylketonuria cohort

M. F. Salazar, J. Cabello, C. Arias, 2021 .

Past, present and future of newborn screening in Chile

J. Cabello, C. Becerra, V. Cornejo, 2010, Journal of Inherited Metabolic Disease.

Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

M. Ugarte, B. Pérez, L. Desviat, 2018, JIMD reports.

Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease

K. Fuenzalida, J. Cabello, A. Faúndez, 2021 .

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

I. Hidalgo, J. Cabello, C. Arias, 2021, Journal of Inborn Errors of Metabolism and Screening.

1,5-Bis- (N-benzyl-N,N-diethylammoninm) diethylether, dichloride (BBDE C1). A novel bis-ammonium salt as phase transfer catalyst

J. Vaquero, F. Dorrego, J. Alvarez-Builla, 1990 .

Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world

J. Cabello, L. Bay, M. Muñoz-Rojas, 2011, Journal of Inherited Metabolic Disease.

Propionic acidemia and optic neuropathy: a report of two cases.

Cecilia Okuma, J. Cabello, G. Castro, 2014, JIMD reports.

Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine‐ and phenylalanine restricted diet in Chile

K. Fuenzalida, J. Cabello, G. Castro, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Binding of microtubules to transitional elements in oligodendrocytes of the myelin mutant taiep rat

E. Couve, M. Roncagliolo, J. Cabello, 1997, Journal of neuroscience research.

[Hepatic glycogen storage diseases: Symptoms, management and associated mutations].

M. Araya, J. Cabello, Catalina Grez, 2021, Andes pediatrica : revista Chilena de pediatria.

Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD).

J. Cabello, G. Castro, C. Arias, 2016, JIMD reports.

Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations

J. Cabello, H. Huff, M. Colombo, 2021, International journal of neonatal screening.

[Gaucher disease in Latin America. A report from the Gaucher Disease International Registry and the Latin American Group for Gaucher Disease].

A. Linares, J. Cabello, G. Drelichman, 2012, Medicina.

Long-term effect of imiglucerase in Latin American children with Gaucher disease type 1: lessons from the International Collaborative Gaucher Group Gaucher Registry

A. Linares, I. Sarmiento, A. Gwosdow, 2014, BMC Hematology.

First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU

J. Cabello, C. Arias, V. Cornejo, 2017, Molecular genetics and metabolism reports.

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

M. Arredondo, J. Cabello, C. Arias, 2017, Molecular genetics and metabolism reports.

Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet

D. Bunout, J. Cabello, C. Arias, 2023, Nutrients.

Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile

V. Faundes, J. Cabello, C. Arias, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Diet therapy and metabolic control among Chilean adults with a neonatal diagnosis of Phenylketonuria

J. Cabello, C. Arias, M. J. Leal-Witt, 2024, Journal of Inborn Errors of Metabolism and Screening.