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Chloe M Mak Selected Research

autosomal dominant Spastic paraplegia 3

8/2009Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
6/2009Hereditary spastic paraplegias.

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Chloe M Mak Research Topics

Disease

2Aromatic amino acid decarboxylase deficiency
10/2021 - 04/2014
2autosomal dominant Spastic paraplegia 3
08/2009 - 06/2009
2Hereditary Spastic Paraplegia
08/2009 - 06/2009
2Hepatolenticular Degeneration (Wilson's Disease)
08/2008 - 01/2008
1Hunt's syndrome
01/2020
1Mucolipidoses (Sialidosis)
01/2020
1Muscle Hypotonia (Hypotonia)
04/2014
1Mitochondrial Diseases (Mitochondrial Disease)
08/2013
1Vomiting
12/2009
1Residual Neoplasm
12/2009
1Shock
12/2009
1Abdominal Pain (Pain, Abdominal)
12/2009
1Gastrinoma
12/2009
1Paraplegia (Spastic Paraplegia)
08/2009
1Acute Liver Failure (Fulminant Hepatic Failure)
12/2008
1Cardiomyopathies (Cardiomyopathy)
12/2007
1Peripheral Nervous System Diseases (PNS Diseases)
12/2007
1Transthyretin-Related Hereditary Amyloidosis
12/2007
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
01/2005
1Peroxisomal Disorders (Peroxisomal Disorder)
01/2005
1Demyelinating Diseases (Demyelinating Disease)
01/2005
1Cerebrotendinous Xanthomatosis
02/2004

Drug/Important Bio-Agent (IBA)

2AcidsIBA
10/2021 - 04/2014
2Neurotransmitter Agents (Neurotransmitter)IBA
10/2021 - 04/2014
2Codon (Codons)IBA
12/2007 - 01/2005
1perampanelIBA
01/2020
1Mitochondrial DNA (mtDNA)IBA
08/2013
1Octreotide (Sandostatin)FDA LinkGeneric
12/2009
1Metoclopramide (Reglan)FDA LinkGeneric
12/2009
1DNA (Deoxyribonucleic Acid)IBA
08/2009
1SpastinIBA
06/2009
1Ceruloplasmin (Ferroxidase)IBA
08/2008
1CopperIBA
01/2008
1Threonine (L-Threonine)FDA Link
12/2007
1Amino AcidsFDA Link
12/2007
1Prealbumin (Transthyretin)IBA
12/2007
1Serine (L-Serine)FDA Link
12/2007
1Lysine (L-Lysine)FDA Link
12/2007
1Alanine (L-Alanine)FDA Link
12/2007
1Fatty Acids (Saturated Fatty Acids)IBA
01/2005
1Cholestanetriol 26-Monooxygenase (Cholestanetriol 26 Monooxygenase)IBA
02/2004

Therapy/Procedure

1Liver Transplantation
12/2008
1Chelation Therapy (Therapy, Chelation)
12/2008