Research/Publication Print

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 22, No 3 (2018)

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

 

PHILIPPINE JOURNAL OF SCIENCCE

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

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