PAK-IMD-Net is a working group of Pakistan Society of Chemical Pathology (PSCP), launched on January 1, 2019, in a multidisciplinary Conference on Newborn Screening for Rare Disorders in Pakistan. The working group is formed for strengthening diagnostics, education and research in the area of inherited metabolic disorders (IMDs). ​

• Inborn Errors of Metabolism (Vol 39, Issue 2 - December 2013) 
• A Rare Edition (LABRAD : Vol 45, Issue 1 - February 2019)​​
  

• Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children ​
  

• Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan​
  

• ​Diagnostic dilemma of patients with methylmalonic aciduria​
  

• Inh​erited metabolic disorders presenting as hypoxic ischaemic encephalopathy​
  

• Pri​mary hyperoxaluria in populations of Pakistan origin

• ​Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect: First case report from Pakistan and review of literature

• Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme

• Adrenal insufficiency in a child with MELAS syndrome

• Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature

• Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

• Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex

• Challenges identified in the management of patients with inherited metabolic disorders – A five year experience from Pakistan

• Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

• Iatrogenic Severe Protein Deficiency in a Child

• Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

• Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children

• Diagnosis, Treatment and Follow-Up in Four Children with Biotinidase Deficiency from Pakistan

• Fanconi–Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets

• Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation

• Retrospective Study of Patients with Hyperphenylalaninemia- Experience from a Tertiary Care Center in Pakistan

• Hereditary tyrosinaemia type I presenting as multiple focal hepatic lesions

• Dyssegemental Dyspalsia; Rolland-Desbuquois Type — A case report from Pakistan

• Genetics of Non-Syndromic Autosomal Recessive Mental Retardation

• Pre-natal genetic counseling in a resource limited country — a single center geneticist's perspectives

• Biotinidase deficiency in Pakistani children; what needs to be known and done

• Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan

• Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan

• Glutaric aciduria type 1 — importance of early diagnosis and treatment

• Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

• OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

• Biotinidase Deficiency- A Treatable Inherited Metabolic Disorder

• Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries

• Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing

• Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features

• Perioperative anesthetic management of children having Inborn errors of metabolism

• Molybdenum cofactor deficiency in a Malaysian child

• Supernumerary derivative (22) syndrome resulting from a maternal balanced translocation

• Puffy Feet in a Neonate

• When Parents are Relatives – Consanguinity