Research & Publications

Research/Publication

ACTA MEDICA PHILIPPINA

Early Access 2024

• Social Media Content Analysis of Public and Private Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Facebook Groups

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
• High Performance Liquid Chromatography (HPLC) Screening among Filipinos with Suspected Thalassemia

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
• Volunteer Youth Leaders for Health – Philippines: Providing a Mechanism for Youth Empowerment towards Advocacy for Birth Defects Prevention and Care

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
• Detection of Maple Syrup Urine Disease on Newborn Screening Second Tier Testing for Phenylketonuria
• 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

Volume 42 Number 2 2008

• Correlation between dried blood spot thin layer chromatography and plasma high performance liquid chromatography of leucine/isoleucine levels among Filipino patients with maple syrup urine disease 

Volume 41 Number 2 2007

• Profile of Filipino infants with 21-hydroxylase deficiency congenital adrenal hyperplasia detected by the Philippine newborn screening program 

Volume 41 Number 1 2007

• Etiology of congenital hypothyroidism among infants screened by 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(2):19

• Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic.

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

PEDIATRICS INTERNATIONAL

2008 Jun;50(3)

• Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection

2003;45(1)

• Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: a pilot study on Filipino male newborns 

1999;41

• Molecular basis of glucose-6-phosphate dehydrogenase deficiency among Filipinos 

JOURNAL OF INHERITED METABOLIC DISEASE

2008 Dec;31 Suppl 2

• Maple syrup urine disease (MSUD)–clinical profile of 47 Filipino patients 

2007 Jul;30(4)

• Newborn screening in the Asia Pacific region 

MOLECULAR GENETICS AND METABOLISM REPORTS

27 (2021) 100745

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

124 (2018)

• Universal newborn screening: A roadmap for action

81 (2004)

• A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

BMJ JOURNALS

BMJ Case Reports CP 2021;14:e242689

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

GENETICS IN MEDICINE

2004

• Living with a child with MSUD: Psychosocial Issues of Filipino Parents with a Child with Maple Syrup Urine Disease 

SOUTHEAST ASIAN JOURNAL OF TROPICAL MEDICINE AND PUBLIC HEALTH

2003;34 Suppl 3

• Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in Southeast Asian countries 
• Newborn screening in the Philippines
• Hyperphenylalaninemia in the Philippines
• Beyond screening: challenges in measuring outcomes 
• Initial versus confirmatory thyroid stimulating hormone (TSH) levels: is there a correlation? 
• Cost-benefit analysis of newborn screening for galactosemia in the Philippines 
• Newborn screening for congenital hypothyroidism in early discharged infants
• Screening for congenital hypothyroidism (CH) among Filipino newborn infants. Philippine Newborn Screening Study Group
• Screening for galactosemia: Philippines experience. Newborn Screening Study Group

OTHERS

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