Research & Publications

Research/Publication

ACTA MEDICA PHILIPPINA

Vol 54 No 4 (2020): Genetics Issue 6

ORIGINAL ARTICLE

• Clinical, Biochemical, and Radiologic Characteristics of Filipino Patients with Glutaric Aciduria Type 1
• Clinical and Biochemical Profiles of Filipino Patients with Distal Urea Cycle Disorders Detected by Abnormal Expanded Newborn Screening
• Gaps in the Newborn Screening Process: Using Maple Syrup Urine Disease as a Case
• Filipino Midwives’ Knowledge, Self-perceived Role and Experiences in Educating Parents of Families with Newborns who are Confirmed Cases of Glucose 6 Phosphate Dehydrogenase Deficiency

Vol 51 No 3 (2017)

ORIGINAL ARTICLE

• Clinical, Biochemical and Molecular Profile of Variant Galactosemia in Children Detected by National Newborn Screening: A Pilot Study
• Parent-Child Communication about Congenital Adrenal Hyperplasia: Filipino Mothers’ Experience

Volume 47 Number 1 Jan-Mar 2013

Volume 46 Number 4 Oct-Dec 2012

ORIGINAL ARTICLE

• Enhancing Case Detection of Selected Inherited Disorders through Expanded Newborn Screening in the Philippines

Volume 45 Number 4 Oct-Dec 2011

FEATURE ARTICLE

• A Master of Science in Genetic Counseling Program in the Philippines

ORIGINAL ARTICLE

• Early Diagnosis and Specialist Care in the Management of Congenital Hypothyroidism
• Characterization of Mutations and Polymorphisms in the G6PD Gene among Filipino Newborns with Glucose-6-Phospate Dehydrogenase Deficiency

Volume 43 Number 2 2009

FEATURE ARTICLE

• Newborn Screening: Research to Policy

CASE REPORTS

• Galactosemia in Three Filipino Patients – The Importance of Newborn Screening
• Two Filipino Patients with 6-Pyruvoyltetrahydropterin Synthase Deficiency

ORIGINAL ARTICLES

• Glucose-6-Phosphate Dehydrogenase Deficiency in Filipino Neonates with Jaundice
• Incidental Detection of Maple Syrup Urine Disease on Newborn Screening Second Tier Testing for Phenylketonuria
• Improved Screening Efficiency for Phenylketonuria using a Modified Bacterial Inhibition Assay Protocol – Autoclaving the Bloodspot
• Mutations of the Steroid 21-Hydroxylase Gene among Filipino Patients with Congenital Adrenal Hyperplasia
• Mutations of the Phenylalanine Hydroxylase (PAH) Gene in Filipino Patients with Phenylketonuria
• Cost-Benefit Analysis of a Neonatal Screening Program for Congenital Hypothyroidism in Metro Manila
• Cost-Benefit Analysis of the Newborn Screening Program of the Philippines
• Models for Increasing the Newborn Screening Performance of Health Facilities
• A Performance Evaluation and Assessment Scheme (PEAS) for Improving the Philippine Newborn Screening Program

PHILIPPINE JOURNAL OF HEALTH RESEARCH AND DEVELOPMENT

Vol. 26 No.4, 55-62 (2022)

• Satellite clinics of the Newborn Screening Continuity Clinic – Region 6: Establishment of a Community-Based Networking System in Western Visayas, Philippines

Vol. 22, No 3 (2018)

• Facilitating Factors and Barriers to Newborn Screening Uptake in the Cordillera Administrative Region and Region V

PHILIPPINE JOURNAL OF SCIENCE

Vol. 150 No. 2, April 2021

• Common Alpha Globin Genes (HBA1 and HBA2) Mutations in Filipino Patients with Alpha Thalassemia

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

2023; 9(1): 2

• Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care

2022; 8(1): 8

• Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry
• 2021, 7(2): 30
• Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines

2020, 6(4): 95

• Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement

MOLECULAR GENETICS AND METABOLISM REPORTS

27 (2021) 100745

• Pregnancy in an adolescent with maple syrup urine disease: Case report

BMJ JOURNALS

BMJ Case Reports CP 2021;14:e242689

• Maple syrup urine disease associated with nephrotic syndrome in a Filipino child

OTHERS

Philippine General Hospital Nursing Services. Newborn Screening Program in Philippine General Hospital. February 2021. Manila.