A Master of Science in Genetic Counseling Program in the Philippines
In the Philippines, there is an urgent need to expand the clinical services for diagnosis, management and emotional support for patients with genetic conditions and their family members. Despite the lack of trained health care providers with specialization in genetics, public health-related genetics programs are continuously being implemented. Read more 

Personalized Genomic Medicine in Current Clinical Practice
Medical science has tremendously evolved over the past decade, particularly in the field of genetics. Our society is currently experiencing an explosion of information and the challenge, especially for us in the medical profession, is to identify which ones are appropriate and useful in managing our patients. Read more

Establishment of the Philippine Birth Defects Surveillance
Congenital anomalies have been in the top ten causes of infant mortality in the Philippines for the past 50 years. Since there is no systematic surveillance for congenital anomalies in our country, there are no specific programs directed toward better understanding of this group of patients. Read more | Full Text

Occurrence of Birth Defects at the Philippine General Hospital: 2001-2010
Introduction. Birth defects are a global problem with impact particularly severe in middle- to low- income countries. In the Philippines, there is limited data on birth defects despite the fact that congenital anomalies have been in the top 10 causes of infant mortality.Read more

Genotype-Phenotype Correlations in Filipino Patients with Type 3 Gaucher Disease
Gaucher disease is an inherited glycolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. Clinical manifestations include hepatosplenomegaly, skeletal abnormalities, anemia and thrombocytopenia.Read more

Intravenous Pamidronate Treatment in Filipino Children with Moderate to Severe Osteogenesis Imperfecta
Objective. To present preliminary data on the effects of intravenous pamidronate in children with moderate to severe Osteogenesis Imperfecta (OI).Read more

Early Diagnosis and Specialist Care in the Management of Congenital Hypothyroidism
Background. Newborn screening for congenital hypothyroidism (CH) in the Philippines was introduced in 1996.Read more

A Clinical and Molecular Cytogenetic Study of Filipino Patients with Williams Syndrome
Objective. To study the clinical spectrum of Filipino patients with Williams Syndrome and to confirm the gene deletion by FISH analysis.Read more

Characterization of Mutations and Polymorphisms in the G6PD Gene among Filipino Newborns with Glucose-6-Phosphate Dehydrogenase Deficiency
Background. Glucose-6-phosphate (G6PD) deficiency is the most prevalent enzyme deficiency to date. The global prevalence of G6PD deficiency is estimated at around 330 million people affected with the disease worldwide. This 4.9 percent prevalence, correlates highly with geographic areas endemic to malaria.Read more

Chromosomal Structural Abnormalities among Filipino Couples with Recurrent Pregnancy Losses
Introduction. Recurrent pregnancy loss is a devastating reproductive problem that affects 5% of couples trying to conceive. Majority of the cases are due to cytogenetic errors. This study determines the prevalence of chromosomal structural abnormalities in Filipino couples who presented with 2 or more pregnancy losses.Read more

A Case of Spinal Muscular Atrophy Type 1 in a Filipino Infant
We present a case of a 7-month-old Filipino who manifested with generalized muscle atrophy and areflexia. She had weak gag reflex and tongue fasciculations.Read more

Ring Chromosome 10 in a Filipino Child: A Case Report and Review of Literature
We report a 12-day-old infant who presented with ambiguous genitalia, short stature, low-set ears, stubby nose, patent ductus arteriosus and ventricular septal defect.Read more

Biochemical and Clinical Findings in the First Two Cases of Glutaric Aciduria Type I in the Philippines
We report the first two diagnosed cases of Glutaric Aciduria Type I (GA I) in the Philippines. The diagnosis was confirmed by urinary organic acid analysis by Gas Chromatography-Mass Spectrometry (GC-MS) which showed the characteristic metabolites for GA I.Read more

Menkes Disease Mimicking Non-Accidental Injury in a Filipino Child
We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Read more

Mitochondrial Respiratory Chain Disorder in Two Filipino Children
Mitochondrial respiratory chain disorders have very diverse manifestations and can present with any symptom, in any organ at any time. Here we describe two Filipino children confirmed to have a mitochondrial respiratory chain disorder after presenting with non-specific neurologic symptoms. Read more

Heart Failure and Short Stature in a 43 year-old male
Classical homocystinuria is an inborn error of metabolism caused by a deficiency of cystathionine ß-synthase that converts homocysteine to cystathionine. This then leads to elevation of homocysteine which results in abnormalities of the eyes, skeleton, central nervous system and vascular system. Read more

Clinical Profiles of Hyperphenylalaninemia Patients Diagnosed by Newborn Screening
Hyperphenylalaninemia is due to problems in phenylalanine metabolism caused by defects in phenylalanine hydroxylase enzyme and its co-factor, tetrahydrobiopterin (BH4). Read more

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