Home
Journals
Archaeology International
Architecture_MPS
Europe and the World: A law review
Film Education Journal
History Education Research Journal
International Journal of Development Education and Global Learning
International Journal of Social Pedagogy
Jewish Historical Studies: A Journal of English-Speaking Jewry
Journal of Bentham Studies
London Review of Education
Radical Americas
Research for All
The Journal of the Sylvia Townsend Warner Society
The London Journal of Canadian Studies
About
About UCL Press
Who we are
Contact us
My ScienceOpen
Sign in
Register
Dashboard
Search
Home
Journals
Archaeology International
Architecture_MPS
Europe and the World: A law review
Film Education Journal
History Education Research Journal
International Journal of Development Education and Global Learning
International Journal of Social Pedagogy
Jewish Historical Studies: A Journal of English-Speaking Jewry
Journal of Bentham Studies
London Review of Education
Radical Americas
Research for All
The Journal of the Sylvia Townsend Warner Society
The London Journal of Canadian Studies
About
About UCL Press
Who we are
Contact us
My ScienceOpen
Sign in
Register
Dashboard
Search
7
views
0
references
Top references
cited by
2
Cite as...
0 reviews
Review
0
comments
Comment
0
recommends
+1
Recommend
0
collections
Add to
0
shares
Share
Twitter
Sina Weibo
Facebook
Email
3,794
similar
All similar
Record
: found
Abstract
: not found
Book
: not found
Atlas of Inherited Metabolic Diseases
other
Author(s):
William L. Nyhan
,
Georg F. Hoffmann
,
Aida I. Al-Aqeel
,
Bruce A. Barshop
Publication date
(Online):
July 14 2020
Publisher:
CRC Press
Read this book at
Publisher
Buy book
Review
Review book
Invite someone to review
Bookmark
Cite as...
There is no author summary for this book yet. Authors can add summaries to their books on ScienceOpen to make them more accessible to a non-specialist audience.
Related collections
Genes & Diseases
Author and book information
Book
ISBN (Electronic):
9781315114033
Publication date (Online):
July 14 2020
DOI:
10.1201/9781315114033
SO-VID:
1965c157-fe50-4496-915f-87ba22e52809
History
Data availability:
Comments
Comment on this book
Sign in to comment
Book chapters
pp. 3
Introduction to the organic acidemias
pp. 9
Propionic acidemia
pp. 20
Methylmalonic acidemia
pp. 34
Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria
pp. 42
The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)
pp. 45
Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
pp. 52
Multiple carboxylase deficiency/biotinidase deficiency
pp. 62
Isovaleric acidemia
pp. 70
Glutaric aciduria (type I)
pp. 82
3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria
pp. 87
D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria
pp. 95
L-2-hydroxyglutaric aciduria
pp. 100
4-Hydroxybutyric aciduria
pp. 109
Alkaptonuria
pp. 116
Phenylketonuria
pp. 127
Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
pp. 141
Biogenic amines
pp. 153
Homocystinuria
pp. 162
Maple syrup urine disease (branched-chain oxoaciduria)
pp. 174
Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency
pp. 176
Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
pp. 183
Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
pp. 192
Nonketotic hyperglycinemia
pp. 201
Serine deficiencies
pp. 207
Introduction to hyperammonemia and disorders of the urea cycle
pp. 215
Ornithine transcarbamylase deficiency
pp. 223
Carbamylphosphate synthetase deficiency
pp. 228
Citrullinemia type I
pp. 234
Argininosuccinic aciduria
pp. 241
Argininemia
pp. 247
Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
pp. 253
Lysinuric protein intolerance
pp. 259
Glutamine synthetase deficiency
pp. 264
Introduction to disorders of fatty acid oxidation
pp. 271
Carnitine transporter deficiency
pp. 278
Carnitine-acylcarnitine translocase deficiency
pp. 285
Carnitine palmitoyl transferase I deficiency
pp. 291
Carnitine palmitoyl transferase II deficiency, lethal neonatal
pp. 296
Medium-chain acyl CoA dehydrogenase deficiency
pp. 304
Very long-chain acyl-CoA dehydrogenase deficiency
pp. 310
Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency
pp. 317
Short-chain acyl CoA dehydrogenase (SCAD) deficiency
pp. 324
Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency
pp. 327
Short/branched-chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency
pp. 331
Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II ethylmalonic-adipic aciduria
pp. 341
3-Hydroxy-3-methylglutarylCoA lyase deficiency
pp. 353
Introduction to lactic acidemias
pp. 364
Pyruvate carboxylase deficiency
pp. 371
Fructose-1,6-diphosphatase deficiency
pp. 376
Deficiency of the pyruvate dehydrogenase complex
pp. 385
Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS)
pp. 393
Myoclonic epilepsy and ragged red fiber (MERRF) disease
pp. 399
Neurodegeneration, ataxia, and retinitis pigmentosa (NARP)
pp. 404
Kearns–Sayre syndrome
pp. 409
Pearson syndrome
pp. 415
The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency
pp. 425
Galactosemia
pp. 435
Glycogen storage diseases: introduction
pp. 439
Glycogenosis type I – von Gierke disease
pp. 449
Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency
pp. 459
Glycogenosis type III/amylo-1, 6-glucosidase (debrancher) deficiency
pp. 471
Adrenoleukodystrophy
pp. 481
Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
pp. 495
Introduction to the disorders of purine and pyrimidine metabolism
pp. 496
Lesch–Nyhan disease and variants
pp. 511
Adenine phosphoribosyltransferase (APRT) deficiency
pp. 516
Phosphoribosylpyrophosphate synthetase and its abnormalities
pp. 521
Adenosine deaminase deficiency
pp. 528
Adenosine kinase deficiency
pp. 533
Purine nucleoside phosphorylase deficiency
pp. 537
Adenylosuccinate lyase deficiency
pp. 541
Xanthinuria, xanthine oxidase deficiency
pp. 544
Orotic aciduria
pp. 548
Molybdenum cofactor deficiency
pp. 555
Introduction to mucopolysaccharidoses
pp. 558
Hurler disease/mucopolysaccharidosis type IH (MPSIH)/α-L-iduronidase deficiency
pp. 567
Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency
pp. 573
Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency
pp. 581
Sanfilippo disease/mucopolysaccharidosis type III
pp. 590
Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia
pp. 600
Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency
pp. 608
Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII
pp. 615
Mucolipidosis II and III/ (I-cell disease and pseudo-Hurler polydystrophy) N-acetyl-glucosaminyl-l-phosphotransferase deficiency
pp. 625
Familial hypercholesterolemia
pp. 636
Mevalonic aciduria
pp. 643
Lipoprotein lipase deficiency/type I hyperlipoproteinemia
pp. 655
Fabry disease
pp. 662
Tay-Sachs disease/hexosaminidase A deficiency
pp. 670
Sandhoff disease/GM2 gangliosidosis/deficiency of Hex A and Hex B subunit deficiency
pp. 678
Gaucher disease
pp. 688
Niemann-Pick disease
pp. 698
Niemann-Pick type C disease/cholesterol-processing abnormality
pp. 706
Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy
pp. 713
Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease
pp. 721
Fucosidosis
pp. 726
α-Mannosidosis (β-Mannosidosis)
pp. 733
Galactosialidosis
pp. 741
Metachromatic leukodystrophy
pp. 750
Multiple sulfatase deficiency
pp. 763
Disorders of vitamin B6 metabolism
pp. 771
PMM2-CDG (Congenital disorders of glycosylation, type Ia)
pp. 778
Ethylmalonic encephalopathy
pp. 787
Disorders of creatine synthesis or transport
pp. 793
GLUT1 deficiency
pp. 796
Hypophosphatasia
pp. 802
NBAS/RALF deficiency
pp. 807
α1-Antitrypsin deficiency
Similar content
3,794
Maintenance of CpG methylation is essential for epigenetic inheritance during plant gametogenesis.
Authors:
Jerzy Paszkowski
,
Hidetoshi Saze
,
Ortrun Mittelsten Scheid
Espaço e doença: um olhar sobre o Amazonas. Atlas de geografia médica
Authors:
MG Paes
,
MLB Barros
,
LM TOLEDO
…
Atlas agroclimático do Estado do Rio Grande do Sul
Authors:
RS Ipagro
See all similar
Cited by
2
Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor
Authors:
Tuany Eichwald
,
Lucila de Bortoli da da Silva
,
Ananda Christina Staats Staats Pires
…
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
Authors:
Rute Sousa Martins
,
Arlindo Guimas
,
Sara Rocha
…
See all cited by