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Infant Hypotonia

Ebook: Manual of Child Neurology: Problem Based Approach to Common Disorders
Volume: 1 Year: 2012
Author(s): Mohammed M. S. Jan
Doi: 10.2174/978160805022211201010083

Pyruvate Dehydrogenase E3 Deficiency - Heterozygous Mutation inDihydrolipoamide Dehydrogenase (DLD) Gene Associated with SymptomaticHypoglycaemia. A Case Report

Journal: New Emirates Medical Journal
Volume: 4 Issue: 2 Year: 2023 Page: 1-4
Author(s): Prashanth S. Veeraiah,Vikram S. Kumar

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 10 Issue: 3 Year: 2011 Page: 355-360
Author(s): Kurt Boonen, Luc Regal, Jaak Jaeken, John W.M. Creemers

Prader-Willi Syndrome: Genetics, Phenotype, and Management

Journal: Current Psychiatry Reviews
Volume: 10 Issue: 2 Year: 2014 Page: 168-181
Author(s): M. Constantine Samaan

Multi-System Disorder Syndromes Associated with Cystinuria Type I

Journal: Current Molecular Medicine
Volume: 8 Issue: 6 Year: 2008 Page: 544-550
Author(s): Kevin Martens, Jaak Jaeken, Gert Matthijs, John W.M. Creemers

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

Journal: Current Genomics
Volume: 12 Issue: 3 Year: 2011 Page: 204-215
Author(s): Merlin G. Butler

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 21 Issue: 12 Year: 2021 Page: 2296-2299
Author(s): Sedigheh Madani,Fatemeh Sayarifard,Parisa Tajdini,Reihaneh Mohsenipour,Hamid Reza Khoram khorshid,Nima Rezaei

The Mechanism of Dead-in-Bed Syndrome and Other Sudden Unexplained Nocturnal Deaths

Journal: Current Diabetes Reviews
Volume: 5 Issue: 4 Year: 2009 Page: 210-215
Author(s): B. Parekh

Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 16-16
Author(s): Ana Cristina Ferreira

The Differential Diagnosis between Cushing’s Disease and Pseudocushing Syndrome in a Pre-agonic Patient

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 17 Year: 2024 Page: 22-22
Author(s):